Materiały źródłowe

• #1 Albinism – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519018/

  Albinism is a group of heritable conditions associated with decreased or absent melanin in ectoderm-derived tissues (most notably the skin, hair, and eyes), yielding a characteristic decrease in skin pigmentation. Patients with albinism are particularly susceptible to solar damage, and these patients must utilize lifelong sun protection precautions. […] These patients should be educated on avoidance of prolonged UV light exposure and avoidance of medications that increase photosensitivity. […] There is no substitute for lifelong sun protection in albinism, and the importance cannot be overestimated. Subjects should be educated on avoidance of prolonged UV light exposure (sun, tanning beds) and avoidance of medications that increase photosensitivity. […] Lifelong, periodic skin examinations (once to twice per year) with dermatology for early detection and treatment of skin cancers. […] Early consultation to ophthalmology and dermatology, as mentioned above. Family referral to geneticist may be beneficial.

• #2 Albinism – symptoms, diagnosis and support | healthdirect

  https://www.healthdirect.gov.au/albinism

  Albinism is a group of genetic conditions in which a person has no or very little melanin pigment in their skin, hair and eyes. Albinism occurs in all racial and ethnic groups throughout the world. In Australia, about 1 in 17,000 people have some type of albinism. […] It is important for people with albinism to protect their skin and eyes from the sun and have their eyes checked regularly. […] People with albinism have a higher risk than others of sunburn, skin problems and skin cancer. Australia’s sunny climate means that good sun protection for the skin is essential, as well as sunglasses to protect the eyes. […] The Albinism Fellowship of Australia provides support and education to people with albinism, parents of children with albinism, and their families and friends.

• #3 Albinism – symptoms, diagnosis and support | healthdirect

  https://www.healthdirect.gov.au/albinism

  Albinism is a group of genetic conditions in which a person has no or very little melanin pigment in their skin, hair and eyes. Albinism occurs in all racial and ethnic groups throughout the world. In Australia, about 1 in 17,000 people have some type of albinism. […] It is important for people with albinism to protect their skin and eyes from the sun and have their eyes checked regularly. […] People with albinism have a higher risk than others of sunburn, skin problems and skin cancer. Australia’s sunny climate means that good sun protection for the skin is essential, as well as sunglasses to protect the eyes. […] The Albinism Fellowship of Australia provides support and education to people with albinism, parents of children with albinism, and their families and friends.

• #4 Albinism | Doctor

  https://patient.info/doctor/albinism-pro

  Carrier detection and prenatal diagnosis are possible if the relevant genetic mutations have been identified in the family. Amniocentesis is performed at 16-18 weeks of gestation. […] However, given proper support, children with albinism can function well, despite considerable visual handicap, and have a normal lifespan, so not all affected families will want this.

• #5 Current and emerging treatments for albinism – PubMed

  https://pubmed.ncbi.nlm.nih.gov/33129801/

  Albinism is a group of rare inherited disorders arising from impairment of melanin biosynthesis. The reduction of melanin synthesis leads to hypopigmentation of the skin and eyes. Currently, albinism is incurable, and treatment aims either surgically or pharmacologically to optimize vision and protect the skin; however, novel therapies that aim to directly address the molecular errors of albinism, such as l-dihydroxyphenylalanine and nitisinone, are being developed and have entered human trials though with limited success. […] Experimental gene-based strategies for editing the genetic errors in albinism have also met early success in animal models. The emergence of these new therapeutic modalities represents a new era in the management of albinism. We focus on the known genetic subtypes, clinical assessment, and existing and emerging therapeutic options for the nonsyndromic forms of albinism.

• #6 Albinism – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519018/

  Albinism is a group of heritable conditions associated with decreased or absent melanin in ectoderm-derived tissues (most notably the skin, hair, and eyes), yielding a characteristic decrease in skin pigmentation. Patients with albinism are particularly susceptible to solar damage, and these patients must utilize lifelong sun protection precautions. […] These patients should be educated on avoidance of prolonged UV light exposure and avoidance of medications that increase photosensitivity. […] There is no substitute for lifelong sun protection in albinism, and the importance cannot be overestimated. Subjects should be educated on avoidance of prolonged UV light exposure (sun, tanning beds) and avoidance of medications that increase photosensitivity. […] Lifelong, periodic skin examinations (once to twice per year) with dermatology for early detection and treatment of skin cancers. […] Early consultation to ophthalmology and dermatology, as mentioned above. Family referral to geneticist may be beneficial.

• #7 Albinism: Types, Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/21747-albinism

  Because albinism is inherited, theres no way to prevent it. […] But if you have a family history of albinism and are planning to have children, you might want to consider genetic counseling.

• #8 Albinism: Causes, Symptoms, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/genetic-diseases/albinism/

  Because albinism is a genetic condition, there is no way to prevent it. However, genetic counseling can help families understand the risks of passing it on to children.

• #9 HIE Multimedia – Albinism

  https://adamcertificationdemo.adam.com/content.aspx?productid=117&pid=1&gid=001479

  Because albinism is inherited, genetic counseling is important. People with a family history of albinism or very light coloring should consider genetic counseling.

• #10 HIE Multimedia – Albinism

  https://adamcertificationdemo.adam.com/content.aspx?productid=117&pid=1&gid=001479

  Because albinism is inherited, genetic counseling is important. People with a family history of albinism or very light coloring should consider genetic counseling.

• #11 Albinism – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/albinism/symptoms-causes/syc-20369184

  If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. The counselor can explain the available genetic tests. […] Although there’s no cure for albinism, people with the disorder can take steps to protect their skin and eyes and get proper eye and skin care. […] People with albinism have skin that is very sensitive to light and sun. Sunburn is one of the most serious complications of albinism. Sun exposure can cause sun damage, which may result in rough and thickened skin. Sunburn also can increase the risk of developing skin cancer.

• #12 Albinism: Symptoms, Causes, Diagnosis & Treatment

  https://www.webmd.com/skin-problems-and-treatments/what-is-albinism

  If someone in your family has albinism, you can talk with a genetic counselor, a professional who specializes in advising people about their risks of inheriting certain conditions. They can help you understand how likely you are to have a child with albinism and explain the kinds of tests that are available. […] A few other simple steps can help you avoid or ease many common problems linked to albinism. […] Get checked for skin cancer every 6-12 months. […] Stay out of the sun if possible, and always wear a tinted broad-spectrum sunscreen with 8% zinc oxide or higher and SPF 30, a hat, sunglasses, long-sleeved shirts, and long pants. […] Get regular eye exams at least every 2-3 years.

• #13 Albinism | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/albinism?content_id=CON-20369167

  If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. The counselor can explain the available genetic tests. […] Treatment focuses on getting proper eye care and monitoring skin for problems. Your care team may include your primary care provider, a specialist in eye care called an ophthalmologist and a specialist in skin care called a dermatologist. […] Skin care and prevention of skin cancer. This includes receiving a skin exam at least every year to screen for skin cancer or spots that can lead to cancer. An aggressive form of skin cancer called melanoma can appear as pink or red moles or growths. Moles or growths, with or without color especially ones that are pink or red and keep changing should be checked by a skin specialist right away.

• #14 Albinism: Types, Symptoms, Causes, Diagnosis, Treatment and More

  https://www.health.com/albinism-8400724

  Because albinism is a genetic condition, it is not preventable. An estimated 1 in 75 people are carriers of genes for albinism. Genetic counseling can help people with albinism and their families understand the condition and make informed decisions about their care. […] If you or your partner have a family history of albinism and plan to have children, meeting with a genetic counselor before conceiving or during pregnancy can help you understand how albinism is inherited and how it might affect your future child(ren).

• #15 Albinism: Types, Symptoms, Causes, Diagnosis, Treatment and More

  https://www.health.com/albinism-8400724

  Because albinism is a genetic condition, it is not preventable. An estimated 1 in 75 people are carriers of genes for albinism. Genetic counseling can help people with albinism and their families understand the condition and make informed decisions about their care. […] If you or your partner have a family history of albinism and plan to have children, meeting with a genetic counselor before conceiving or during pregnancy can help you understand how albinism is inherited and how it might affect your future child(ren).

• #16 App aims to offer resources to people with albinism

  https://www.nature.com/articles/d44148-023-00179-z

  A new app for people with albinism offers resources about the condition, from raising awareness about the importance of appropriate UV protection, building resilience and self-confidence in the face of discrimination. […] If both parents carry the defective gene, a child has a 25% chance of having albinism, needing treatment for visual impairment and extra protection from UV light to prevent skin cancer. […] In support, a book called Albinism just a gene was produced for school children and a new website set up, to highlight the genetic principles of pigmentation in people, including those with albinism. […] Further efforts in basic scientific research are needed to get a greater mechanistic understanding on albinism, considering its clinical and genetic subtypes with broad phenotypic heterogeneity.

• #17 Albinism: Types, Symptoms, and Causes

  https://patient.info/skin-conditions/albinism-leaflet

  Albinism cannot be prevented, as it is an inherited (genetic) condition rather than an illness. […] Gene testing can be used to determine if a baby in the womb has albinism. Amniocentesis is performed at 16 to 18 weeks of gestation in pregnancy. Those considering testing of this sort should be made aware that, whilst children with albinism are usually severely visually impaired, they are otherwise healthy and have a normal lifespan.

• #18 Albinism | Doctor

  https://patient.info/doctor/albinism-pro

  Carrier detection and prenatal diagnosis are possible if the relevant genetic mutations have been identified in the family. Amniocentesis is performed at 16-18 weeks of gestation. […] However, given proper support, children with albinism can function well, despite considerable visual handicap, and have a normal lifespan, so not all affected families will want this.

• #19 Albinism: Types, Symptoms, and Causes

  https://patient.info/skin-conditions/albinism-leaflet

  Albinism cannot be prevented, as it is an inherited (genetic) condition rather than an illness. […] Gene testing can be used to determine if a baby in the womb has albinism. Amniocentesis is performed at 16 to 18 weeks of gestation in pregnancy. Those considering testing of this sort should be made aware that, whilst children with albinism are usually severely visually impaired, they are otherwise healthy and have a normal lifespan.

• #20 Albinism | Doctor

  https://patient.info/doctor/albinism-pro

  Carrier detection and prenatal diagnosis are possible if the relevant genetic mutations have been identified in the family. Amniocentesis is performed at 16-18 weeks of gestation. […] However, given proper support, children with albinism can function well, despite considerable visual handicap, and have a normal lifespan, so not all affected families will want this.

• #21 Albinism | Doctor

  https://patient.info/doctor/albinism-pro

  Carrier detection and prenatal diagnosis are possible if the relevant genetic mutations have been identified in the family. Amniocentesis is performed at 16-18 weeks of gestation. […] However, given proper support, children with albinism can function well, despite considerable visual handicap, and have a normal lifespan, so not all affected families will want this.

• #22 Oculocutaneous Albinism Type 1 (OCAI) via the TYR Gene Test – PreventionGenetics

  https://www.preventiongenetics.com/testInfo?val=Oculocutaneous-Albinism-Type-1-%28OCAI%29-via-the-TYR-Gene

  All patients with symptoms suggestive of Oculocutaneous albinism type 1 (OCAI) are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in TYR. […] This test provides full coverage of all coding exons of the TYR gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. […] An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

• #23 Oculocutaneous Albinism Type 1 (OCAI) via the TYR Gene Test – PreventionGenetics

  https://www.preventiongenetics.com/testInfo?val=Oculocutaneous-Albinism-Type-1-%28OCAI%29-via-the-TYR-Gene

  All patients with symptoms suggestive of Oculocutaneous albinism type 1 (OCAI) are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in TYR. […] This test provides full coverage of all coding exons of the TYR gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. […] An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

• #24 Albinism – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/albinism/symptoms-causes/syc-20369184

  If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. The counselor can explain the available genetic tests. […] Although there’s no cure for albinism, people with the disorder can take steps to protect their skin and eyes and get proper eye and skin care. […] People with albinism have skin that is very sensitive to light and sun. Sunburn is one of the most serious complications of albinism. Sun exposure can cause sun damage, which may result in rough and thickened skin. Sunburn also can increase the risk of developing skin cancer.

• #25 Albinism – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/albinism/symptoms-causes/syc-20369184

  If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. The counselor can explain the available genetic tests. […] Although there’s no cure for albinism, people with the disorder can take steps to protect their skin and eyes and get proper eye and skin care. […] People with albinism have skin that is very sensitive to light and sun. Sunburn is one of the most serious complications of albinism. Sun exposure can cause sun damage, which may result in rough and thickened skin. Sunburn also can increase the risk of developing skin cancer.

• #26 Prevention and management of skin cancer for albinism sufferers

  https://www.fondationpierrefabre.org/en/our-programmes/tropical-dermatology/prevention-management-skin-cancers-albinism/

  The risks of developing skin cancer and skin disorders are extremely high and studies suggest that most people with albinism die from skin cancer between the ages of 30 and 40. […] Still, these dramatic consequences are, to a great degree, preventable: simple means, such as using sunscreen and wearing appropriate clothing, can prevent these cancers. […] The Fondation Pierre Fabre put out a call for proposals to about thirty associations in Africa to strengthen programmes supporting information, early detection and medical care for people with albinism. […] Organise the prevention of skin cancers. […] Raise awareness among patients, families and communities. […] Studies estimate that the majority die of skin cancer between the ages of 30 and 40. […] This report brings you details of the cancer awareness, prevention and care initiatives rolled out in Tanzania.

• #27 Prevention and management of skin cancer for albinism sufferers

  https://www.fondationpierrefabre.org/en/our-programmes/tropical-dermatology/prevention-management-skin-cancers-albinism/

  The risks of developing skin cancer and skin disorders are extremely high and studies suggest that most people with albinism die from skin cancer between the ages of 30 and 40. […] Still, these dramatic consequences are, to a great degree, preventable: simple means, such as using sunscreen and wearing appropriate clothing, can prevent these cancers. […] The Fondation Pierre Fabre put out a call for proposals to about thirty associations in Africa to strengthen programmes supporting information, early detection and medical care for people with albinism. […] Organise the prevention of skin cancers. […] Raise awareness among patients, families and communities. […] Studies estimate that the majority die of skin cancer between the ages of 30 and 40. […] This report brings you details of the cancer awareness, prevention and care initiatives rolled out in Tanzania.

• #28 Albinism: Symptoms, Causes, Types, Prevention, Risks and More

  https://www.medicinenet.com/albinism_overview/article.htm

  Theres no way to prevent albinism in someone already born with it. But if you have a family history of albinism, genetic counseling can help you and your partner figure out if your kids will be at risk. A genetic counselor can discuss family planning options, too. […] There is no cure or treatment for albinism. You can, though, protect yourself against some problems it can cause. If you have albinism, your skin and eyes are sensitive to damage from UV light. […] To protect yourself from skin cancer and other UV-related problems, you should: Avoid spending too much time outside in the daylight. If you do have to be in the sun, wear a high-SPF, broad-spectrum sunscreen with protective hats and clothing. Wear sunglasses that provide UV protection. Get annual eye and skin exams to catch any problems early.

• #29 Information Bulletin – Sun Protection – National Organization for Albinism and Hypopigmentation

  https://albinism.org/information-bulletin-sun-protection/

  People with albinism can enjoy the outdoors by limiting their exposure to sunlight, wearing appropriate hats and clothing, and using sunscreens diligently. […] Preventing sunburn is important, but not sufficient to prevent sun-damaged skin. […] People with albinism should use sunscreens labeled SPF of 20 to 30. […] The current SPF system focuses on sunburning, and mainly measures UVB protection. […] Since UVA penetrates the skin deeply but has much less energy for burning, researchers have become concerned that sunscreens could create a false sense of security, and allow people to sustain damage to their skin. […] Even for older children and adults with albinism, it is important not to rely on sunscreens, and to limit exposure to the sun. […] Planning outdoor activities for morning or evening is the single most important measure for people with albinism to avoid sun damage. […] People with albinism can prevent serious problems with skin cancers by taking protection against the sun, by examining their own skin for long-lasting irritated spots, and by getting regular physician exams of skin as adults.

• #30 Albinism: Symptoms, Causes, Types, Prevention, Risks and More

  https://www.medicinenet.com/albinism_overview/article.htm

  Theres no way to prevent albinism in someone already born with it. But if you have a family history of albinism, genetic counseling can help you and your partner figure out if your kids will be at risk. A genetic counselor can discuss family planning options, too. […] There is no cure or treatment for albinism. You can, though, protect yourself against some problems it can cause. If you have albinism, your skin and eyes are sensitive to damage from UV light. […] To protect yourself from skin cancer and other UV-related problems, you should: Avoid spending too much time outside in the daylight. If you do have to be in the sun, wear a high-SPF, broad-spectrum sunscreen with protective hats and clothing. Wear sunglasses that provide UV protection. Get annual eye and skin exams to catch any problems early.

• #31 Albinism (for Teens) | Nemours KidsHealth

  https://kidshealth.org/en/teens/albinism.html

  Most people with albinism are otherwise healthy. Treatments mainly include taking care of the eyes and skin. […] People with albinism have an increased risk of developing skin cancer. To protect their skin, they can: Wear broad-spectrum sunscreen with at least SPF 30 when going outside and reapply every 2 hours. Try to stay in the shade as much as possible. Cover up with clothing with SPF protection. Wear a hat. Check their skin for changes or suspicious marks. See their dermatologist every 6-12 months for a skin check. Avoid tanning beds. Avoid medicines that make them more sensitive to the sun.

• #32 Albinism – Dermatologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/dermatologic-disorders/pigmentation-disorders/albinism

  Oculocutaneous albinism is an inherited defect in melanin formation that causes diffuse hypopigmentation of the skin, hair, and eyes. […] No treatment for the skin involvement is available other than protection from sunlight. […] Patients are at high risk of sunburn and skin cancers (especially squamous cell carcinoma) and should avoid direct sunlight, use sunglasses with ultraviolet (UV) filtration, wear sun-protective clothing with a UV protection factor of 50 or higher, and use sunscreen with a broad-spectrum sun protection factor (SPF) of 50 or higher that protects against UVA and UVB wavelengths (see sun exposure prevention). […] Instruct patients on how to strictly protect the skin and eyes from sun exposure.

• #33 Information Bulletin – Sun Protection – National Organization for Albinism and Hypopigmentation

  https://albinism.org/information-bulletin-sun-protection/

  People with albinism can enjoy the outdoors by limiting their exposure to sunlight, wearing appropriate hats and clothing, and using sunscreens diligently. […] Preventing sunburn is important, but not sufficient to prevent sun-damaged skin. […] People with albinism should use sunscreens labeled SPF of 20 to 30. […] The current SPF system focuses on sunburning, and mainly measures UVB protection. […] Since UVA penetrates the skin deeply but has much less energy for burning, researchers have become concerned that sunscreens could create a false sense of security, and allow people to sustain damage to their skin. […] Even for older children and adults with albinism, it is important not to rely on sunscreens, and to limit exposure to the sun. […] Planning outdoor activities for morning or evening is the single most important measure for people with albinism to avoid sun damage. […] People with albinism can prevent serious problems with skin cancers by taking protection against the sun, by examining their own skin for long-lasting irritated spots, and by getting regular physician exams of skin as adults.

• #34 Information Bulletin – Sun Protection – National Organization for Albinism and Hypopigmentation

  https://albinism.org/information-bulletin-sun-protection/

  People with albinism can enjoy the outdoors by limiting their exposure to sunlight, wearing appropriate hats and clothing, and using sunscreens diligently. […] Preventing sunburn is important, but not sufficient to prevent sun-damaged skin. […] People with albinism should use sunscreens labeled SPF of 20 to 30. […] The current SPF system focuses on sunburning, and mainly measures UVB protection. […] Since UVA penetrates the skin deeply but has much less energy for burning, researchers have become concerned that sunscreens could create a false sense of security, and allow people to sustain damage to their skin. […] Even for older children and adults with albinism, it is important not to rely on sunscreens, and to limit exposure to the sun. […] Planning outdoor activities for morning or evening is the single most important measure for people with albinism to avoid sun damage. […] People with albinism can prevent serious problems with skin cancers by taking protection against the sun, by examining their own skin for long-lasting irritated spots, and by getting regular physician exams of skin as adults.

• #35 Information Bulletin – Sun Protection – National Organization for Albinism and Hypopigmentation

  https://albinism.org/information-bulletin-sun-protection/

  People with albinism can enjoy the outdoors by limiting their exposure to sunlight, wearing appropriate hats and clothing, and using sunscreens diligently. […] Preventing sunburn is important, but not sufficient to prevent sun-damaged skin. […] People with albinism should use sunscreens labeled SPF of 20 to 30. […] The current SPF system focuses on sunburning, and mainly measures UVB protection. […] Since UVA penetrates the skin deeply but has much less energy for burning, researchers have become concerned that sunscreens could create a false sense of security, and allow people to sustain damage to their skin. […] Even for older children and adults with albinism, it is important not to rely on sunscreens, and to limit exposure to the sun. […] Planning outdoor activities for morning or evening is the single most important measure for people with albinism to avoid sun damage. […] People with albinism can prevent serious problems with skin cancers by taking protection against the sun, by examining their own skin for long-lasting irritated spots, and by getting regular physician exams of skin as adults.

• #36 Albinism (for Teens) | Nemours KidsHealth

  https://kidshealth.org/en/teens/albinism.html

  Most people with albinism are otherwise healthy. Treatments mainly include taking care of the eyes and skin. […] People with albinism have an increased risk of developing skin cancer. To protect their skin, they can: Wear broad-spectrum sunscreen with at least SPF 30 when going outside and reapply every 2 hours. Try to stay in the shade as much as possible. Cover up with clothing with SPF protection. Wear a hat. Check their skin for changes or suspicious marks. See their dermatologist every 6-12 months for a skin check. Avoid tanning beds. Avoid medicines that make them more sensitive to the sun.

• #37 Albinism – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519018/

  Albinism is a group of heritable conditions associated with decreased or absent melanin in ectoderm-derived tissues (most notably the skin, hair, and eyes), yielding a characteristic decrease in skin pigmentation. Patients with albinism are particularly susceptible to solar damage, and these patients must utilize lifelong sun protection precautions. […] These patients should be educated on avoidance of prolonged UV light exposure and avoidance of medications that increase photosensitivity. […] There is no substitute for lifelong sun protection in albinism, and the importance cannot be overestimated. Subjects should be educated on avoidance of prolonged UV light exposure (sun, tanning beds) and avoidance of medications that increase photosensitivity. […] Lifelong, periodic skin examinations (once to twice per year) with dermatology for early detection and treatment of skin cancers. […] Early consultation to ophthalmology and dermatology, as mentioned above. Family referral to geneticist may be beneficial.

• #38 Albinism – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519018/

  Albinism is a group of heritable conditions associated with decreased or absent melanin in ectoderm-derived tissues (most notably the skin, hair, and eyes), yielding a characteristic decrease in skin pigmentation. Patients with albinism are particularly susceptible to solar damage, and these patients must utilize lifelong sun protection precautions. […] These patients should be educated on avoidance of prolonged UV light exposure and avoidance of medications that increase photosensitivity. […] There is no substitute for lifelong sun protection in albinism, and the importance cannot be overestimated. Subjects should be educated on avoidance of prolonged UV light exposure (sun, tanning beds) and avoidance of medications that increase photosensitivity. […] Lifelong, periodic skin examinations (once to twice per year) with dermatology for early detection and treatment of skin cancers. […] Early consultation to ophthalmology and dermatology, as mentioned above. Family referral to geneticist may be beneficial.

• #39 Albinism: Symptoms, Causes, Diagnosis & Treatment

  https://www.webmd.com/skin-problems-and-treatments/what-is-albinism

  If someone in your family has albinism, you can talk with a genetic counselor, a professional who specializes in advising people about their risks of inheriting certain conditions. They can help you understand how likely you are to have a child with albinism and explain the kinds of tests that are available. […] A few other simple steps can help you avoid or ease many common problems linked to albinism. […] Get checked for skin cancer every 6-12 months. […] Stay out of the sun if possible, and always wear a tinted broad-spectrum sunscreen with 8% zinc oxide or higher and SPF 30, a hat, sunglasses, long-sleeved shirts, and long pants. […] Get regular eye exams at least every 2-3 years.

• #40 Albinism (for Teens) | Nemours KidsHealth

  https://kidshealth.org/en/teens/albinism.html

  Most people with albinism are otherwise healthy. Treatments mainly include taking care of the eyes and skin. […] People with albinism have an increased risk of developing skin cancer. To protect their skin, they can: Wear broad-spectrum sunscreen with at least SPF 30 when going outside and reapply every 2 hours. Try to stay in the shade as much as possible. Cover up with clothing with SPF protection. Wear a hat. Check their skin for changes or suspicious marks. See their dermatologist every 6-12 months for a skin check. Avoid tanning beds. Avoid medicines that make them more sensitive to the sun.

• #41 Albinism | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/albinism?content_id=CON-20369167

  If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. The counselor can explain the available genetic tests. […] Treatment focuses on getting proper eye care and monitoring skin for problems. Your care team may include your primary care provider, a specialist in eye care called an ophthalmologist and a specialist in skin care called a dermatologist. […] Skin care and prevention of skin cancer. This includes receiving a skin exam at least every year to screen for skin cancer or spots that can lead to cancer. An aggressive form of skin cancer called melanoma can appear as pink or red moles or growths. Moles or growths, with or without color especially ones that are pink or red and keep changing should be checked by a skin specialist right away.

• #42

  https://dermnetnz.org/topics/albinism

  It is important for people with albinism to protect themselves from UV exposure and thus prevent the damaging effects it can have on the skin. […] Sun avoidance methods include wearing protective clothing (long sleeves and pants, shirts with collars, tightly woven fabrics that don’t let light through), hats (wide-brimmed) and eyewear (specifically made to protect from UV rays), and using broad-spectrum sunscreens with SPF of 50 or greater: apply to all exposed areas. […] Undergo frequent skin examinations by someone who has been taught to recognise signs of skin cancer. […] Because the patient has no, or little, pigmentation, skin cancers will often have no or little pigmentation. Patients with albinism should promptly report suspicious spots or growths to a doctor.

• #43 Albinism | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/albinism?content_id=CON-20369167

  If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. The counselor can explain the available genetic tests. […] Treatment focuses on getting proper eye care and monitoring skin for problems. Your care team may include your primary care provider, a specialist in eye care called an ophthalmologist and a specialist in skin care called a dermatologist. […] Skin care and prevention of skin cancer. This includes receiving a skin exam at least every year to screen for skin cancer or spots that can lead to cancer. An aggressive form of skin cancer called melanoma can appear as pink or red moles or growths. Moles or growths, with or without color especially ones that are pink or red and keep changing should be checked by a skin specialist right away.

• #44 Information Bulletin – Sun Protection – National Organization for Albinism and Hypopigmentation

  https://albinism.org/information-bulletin-sun-protection/

  People with albinism can enjoy the outdoors by limiting their exposure to sunlight, wearing appropriate hats and clothing, and using sunscreens diligently. […] Preventing sunburn is important, but not sufficient to prevent sun-damaged skin. […] People with albinism should use sunscreens labeled SPF of 20 to 30. […] The current SPF system focuses on sunburning, and mainly measures UVB protection. […] Since UVA penetrates the skin deeply but has much less energy for burning, researchers have become concerned that sunscreens could create a false sense of security, and allow people to sustain damage to their skin. […] Even for older children and adults with albinism, it is important not to rely on sunscreens, and to limit exposure to the sun. […] Planning outdoor activities for morning or evening is the single most important measure for people with albinism to avoid sun damage. […] People with albinism can prevent serious problems with skin cancers by taking protection against the sun, by examining their own skin for long-lasting irritated spots, and by getting regular physician exams of skin as adults.

• #45 Ocular albinism treatments and support

  https://www.medicalnewstoday.com/articles/ocular-albinism-treatment

  There is currently no cure for ocular albinism. However, people can manage their condition with low vision aids and protective eyewear. In some cases, doctors may perform eye surgery. […] While there is no cure for ocular albinism, treatments aim to optimize vision and manage associated symptoms. […] People with ocular albinism experience mild to moderate central vision loss, so they may benefit from using low vision glasses. These glasses help individuals see objects or another person from a distance. […] Most people with albinism develop refractive errors such as hyperopia, myopia, and astigmatism. Doctors correct these with glasses or contact lenses to help optimize visual acuity. […] Absorptive sunglasses or contact lenses with color may help reduce light sensitivity that occurs with ocular albinism.

• #46 Ocular albinism treatments and support

  https://www.medicalnewstoday.com/articles/ocular-albinism-treatment

  There is currently no cure for ocular albinism. However, people can manage their condition with low vision aids and protective eyewear. In some cases, doctors may perform eye surgery. […] While there is no cure for ocular albinism, treatments aim to optimize vision and manage associated symptoms. […] People with ocular albinism experience mild to moderate central vision loss, so they may benefit from using low vision glasses. These glasses help individuals see objects or another person from a distance. […] Most people with albinism develop refractive errors such as hyperopia, myopia, and astigmatism. Doctors correct these with glasses or contact lenses to help optimize visual acuity. […] Absorptive sunglasses or contact lenses with color may help reduce light sensitivity that occurs with ocular albinism.

• #47 Albinism: Symptoms, Causes, Types, Prevention, Risks and More

  https://www.medicinenet.com/albinism_overview/article.htm

  Theres no way to prevent albinism in someone already born with it. But if you have a family history of albinism, genetic counseling can help you and your partner figure out if your kids will be at risk. A genetic counselor can discuss family planning options, too. […] There is no cure or treatment for albinism. You can, though, protect yourself against some problems it can cause. If you have albinism, your skin and eyes are sensitive to damage from UV light. […] To protect yourself from skin cancer and other UV-related problems, you should: Avoid spending too much time outside in the daylight. If you do have to be in the sun, wear a high-SPF, broad-spectrum sunscreen with protective hats and clothing. Wear sunglasses that provide UV protection. Get annual eye and skin exams to catch any problems early.

• #48 Albinism (for Teens) | Nemours KidsHealth

  https://kidshealth.org/en/teens/albinism.html

  Most people with albinism are otherwise healthy. Treatments mainly include taking care of the eyes and skin. […] People with albinism have an increased risk of developing skin cancer. To protect their skin, they can: Wear broad-spectrum sunscreen with at least SPF 30 when going outside and reapply every 2 hours. Try to stay in the shade as much as possible. Cover up with clothing with SPF protection. Wear a hat. Check their skin for changes or suspicious marks. See their dermatologist every 6-12 months for a skin check. Avoid tanning beds. Avoid medicines that make them more sensitive to the sun.

• #49 Albinism – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519018/

  Albinism is a group of heritable conditions associated with decreased or absent melanin in ectoderm-derived tissues (most notably the skin, hair, and eyes), yielding a characteristic decrease in skin pigmentation. Patients with albinism are particularly susceptible to solar damage, and these patients must utilize lifelong sun protection precautions. […] These patients should be educated on avoidance of prolonged UV light exposure and avoidance of medications that increase photosensitivity. […] There is no substitute for lifelong sun protection in albinism, and the importance cannot be overestimated. Subjects should be educated on avoidance of prolonged UV light exposure (sun, tanning beds) and avoidance of medications that increase photosensitivity. […] Lifelong, periodic skin examinations (once to twice per year) with dermatology for early detection and treatment of skin cancers. […] Early consultation to ophthalmology and dermatology, as mentioned above. Family referral to geneticist may be beneficial.

• #50 Albinism

  https://www.mymlc.com/health-information/diseases-and-conditions/a/albinism2/

  If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. He or she can also explain the available tests. […] Treatment focuses on getting proper eye care and monitoring skin for signs of abnormalities. Your care team may involve your primary care doctor and doctors specializing in eye care (ophthalmologist), skin care (dermatologist) and genetics. […] Treatment generally includes: Eye care. This includes receiving an annual eye exam by an ophthalmologist and most likely wearing prescription corrective lenses. Although surgery is rarely part of treatment for eye problems related to albinism, your ophthalmologist may recommend surgery on optical muscles to minimize nystagmus. Surgery to correct strabismus may make the condition less noticeable.

• #51 Albinism: Causes, Types, Pictures, Symptoms, and More

  https://www.healthline.com/health/albinism

  Theres no cure for albinism. But treatment can help relieve symptoms and prevent sun damage. […] Treatment may include: sunglasses to protect the eyes from the suns ultraviolet (UV) rays, protective clothing and sunscreen to protect the skin from UV rays, prescription eyeglasses to correct vision problems, surgery on the muscles of the eyes to correct abnormal eye movements. […] People with albinism may have to limit their outdoor activities because their skin and eyes are sensitive to the sun. UV rays from the sun can cause skin cancer and vision loss in some people with albinism.

• #52 Ocular albinism treatments and support

  https://www.medicalnewstoday.com/articles/ocular-albinism-treatment

  There is currently no cure for ocular albinism. However, people can manage their condition with low vision aids and protective eyewear. In some cases, doctors may perform eye surgery. […] While there is no cure for ocular albinism, treatments aim to optimize vision and manage associated symptoms. […] People with ocular albinism experience mild to moderate central vision loss, so they may benefit from using low vision glasses. These glasses help individuals see objects or another person from a distance. […] Most people with albinism develop refractive errors such as hyperopia, myopia, and astigmatism. Doctors correct these with glasses or contact lenses to help optimize visual acuity. […] Absorptive sunglasses or contact lenses with color may help reduce light sensitivity that occurs with ocular albinism.

• #53 Albinism: Causes, Types, Pictures, Symptoms, and More

  https://www.healthline.com/health/albinism

  Theres no cure for albinism. But treatment can help relieve symptoms and prevent sun damage. […] Treatment may include: sunglasses to protect the eyes from the suns ultraviolet (UV) rays, protective clothing and sunscreen to protect the skin from UV rays, prescription eyeglasses to correct vision problems, surgery on the muscles of the eyes to correct abnormal eye movements. […] People with albinism may have to limit their outdoor activities because their skin and eyes are sensitive to the sun. UV rays from the sun can cause skin cancer and vision loss in some people with albinism.

• #54 Ocular albinism treatments and support

  https://www.medicalnewstoday.com/articles/ocular-albinism-treatment

  There is currently no cure for ocular albinism. However, people can manage their condition with low vision aids and protective eyewear. In some cases, doctors may perform eye surgery. […] While there is no cure for ocular albinism, treatments aim to optimize vision and manage associated symptoms. […] People with ocular albinism experience mild to moderate central vision loss, so they may benefit from using low vision glasses. These glasses help individuals see objects or another person from a distance. […] Most people with albinism develop refractive errors such as hyperopia, myopia, and astigmatism. Doctors correct these with glasses or contact lenses to help optimize visual acuity. […] Absorptive sunglasses or contact lenses with color may help reduce light sensitivity that occurs with ocular albinism.

• #55 Ocular albinism treatments and support

  https://www.medicalnewstoday.com/articles/ocular-albinism-treatment

  In some cases, extraocular muscle surgery may help treat strabismus or other issues associated with ocular albinism. […] A 2021 review states that some of the newer treatments for albinism may include drugs such as l-dihydroxyphenylalanine and nitisinone. […] Further studies in humans are necessary to determine the effects of these newer drugs, as they may be a promising treatment for ocular albinism. […] While there is no cure for ocular albinism, treatments can help manage associated symptoms and improve vision. […] Doctors may also offer corrective surgery in some cases for ocular albinism. More research into other treatments is necessary.

• #56 Albinism

  https://www.mymlc.com/health-information/diseases-and-conditions/a/albinism2/

  If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. He or she can also explain the available tests. […] Treatment focuses on getting proper eye care and monitoring skin for signs of abnormalities. Your care team may involve your primary care doctor and doctors specializing in eye care (ophthalmologist), skin care (dermatologist) and genetics. […] Treatment generally includes: Eye care. This includes receiving an annual eye exam by an ophthalmologist and most likely wearing prescription corrective lenses. Although surgery is rarely part of treatment for eye problems related to albinism, your ophthalmologist may recommend surgery on optical muscles to minimize nystagmus. Surgery to correct strabismus may make the condition less noticeable.

• #57 Albinism

  https://www.mymlc.com/health-information/diseases-and-conditions/a/albinism2/

  If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. He or she can also explain the available tests. […] Treatment focuses on getting proper eye care and monitoring skin for signs of abnormalities. Your care team may involve your primary care doctor and doctors specializing in eye care (ophthalmologist), skin care (dermatologist) and genetics. […] Treatment generally includes: Eye care. This includes receiving an annual eye exam by an ophthalmologist and most likely wearing prescription corrective lenses. Although surgery is rarely part of treatment for eye problems related to albinism, your ophthalmologist may recommend surgery on optical muscles to minimize nystagmus. Surgery to correct strabismus may make the condition less noticeable.

• #58 Low Vision & Nystagmus Treatment | Jenkins Eye Care

  https://jenkinseyecare.com/how-low-vision-treatment-helps-individuals-with-albinism/

  Reliable eye care is essential when it comes to addressing the specific needs of individuals with albinism. […] By providing reliable eye care, these individuals can effectively manage their vision problems and prevent further complications. […] Low vision treatment plays a crucial role in improving the lives of individuals with albinism. With specialized visual aids, optical filters, training, and counseling, people with albinism can overcome their unique visual challenges and lead more fulfilling lives. […] To ensure the best results, it is essential to seek reliable eye care from professionals experienced in low vision treatment.

• #59 Providing Patients With Multidisciplinary, Preventative Care in the Management of Albinism

  https://www.dermatologytimes.com/view/providing-patients-with-multidisciplinary-preventative-care-in-the-management-of-albinism

  Though albinism impacts pigmentation of the skin, as well as the nails and eyes, dermatologists cannot „treat” patients with albinism. There is no way to treat or prevent the lack of skin pigmentation. […] However, it is crucial that dermatology clinicians engage in preventative and multidisciplinary care. […] Emphasize the importance of sun protection to your patients with albinism, even more than is typical with otherwise healthy individuals. Advise them to use sunscreen with a sun protection factor of at least 30, ensuring it offers broad-spectrum protection against both UVA and UVB rays. Alongside sunscreen, patients should be cautioned against prolonged sun exposure, particularly during peak UV radiation times, such as midday, and in high-risk environments like high altitudes or areas near water.

• #60 Albinism | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/albinism?content_id=CON-20369167

  If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. The counselor can explain the available genetic tests. […] Treatment focuses on getting proper eye care and monitoring skin for problems. Your care team may include your primary care provider, a specialist in eye care called an ophthalmologist and a specialist in skin care called a dermatologist. […] Skin care and prevention of skin cancer. This includes receiving a skin exam at least every year to screen for skin cancer or spots that can lead to cancer. An aggressive form of skin cancer called melanoma can appear as pink or red moles or growths. Moles or growths, with or without color especially ones that are pink or red and keep changing should be checked by a skin specialist right away.

• #61 Albinism | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/albinism?content_id=CON-20369167

  If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. The counselor can explain the available genetic tests. […] Treatment focuses on getting proper eye care and monitoring skin for problems. Your care team may include your primary care provider, a specialist in eye care called an ophthalmologist and a specialist in skin care called a dermatologist. […] Skin care and prevention of skin cancer. This includes receiving a skin exam at least every year to screen for skin cancer or spots that can lead to cancer. An aggressive form of skin cancer called melanoma can appear as pink or red moles or growths. Moles or growths, with or without color especially ones that are pink or red and keep changing should be checked by a skin specialist right away.

• #62 Albinism | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/albinism

  If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. The counselor can explain the available genetic tests. […] Treatment focuses on getting proper eye care and monitoring skin for problems. Your care team may include your primary care provider, a specialist in eye care called an ophthalmologist and a specialist in skin care called a dermatologist. […] This includes receiving a skin exam at least every year to screen for skin cancer or spots that can lead to cancer. An aggressive form of skin cancer called melanoma can appear as pink or red moles or growths. Moles or growths, with or without color especially ones that are pink or red and keep changing should be checked by a skin specialist right away.

• #63 Albinism: for patients – Gene Vision

  https://gene.vision/knowledge-base/albinism-for-patients/

  Treatment with medications such as gabapentin or memantine have been shown to improve vision by reducing the extent of nystagmus, but data of their usage in children is lacking. […] In addition to paediatricians and eye doctors, other medical professionals such as haematologists, respiratory doctors and/or gastroenterologists are usually involved in the care of patients affected by Hermansky-Pudlak and Chediak-Higashi syndromes so that detailed assessment and treatment can be started as soon as possible. […] Furthermore, visual impairment can have a negative impact on a child’s early general development. Therefore, timely referral to practitioners familiar with developmental surveillance and intervention for children with visual impairment (VI), such as developmental paediatricians as well as a Qualified Teacher of children and young people with Visual Impairment (QTVI) is crucial to optimise their developmental potential.

• #64 Oculocutaneous albinism – UpToDate

  https://www.uptodate.com/contents/oculocutaneous-albinism

  Oculocutaneous albinism (OCA) is a group of rare genetic disorders of melanin biosynthesis that disrupt melanosomal proteins; each is inherited in an autosomal recessive pattern. Reduced skin pigmentation leads to photosensitivity, increased skin cancer risk, and social consequences of appearing different than others. […] Management of eye abnormalities includes frequency of eye examination, correction of refractive errors, eye muscle surgery, and low-vision aids. […] Sun protection and skin cancer surveillance are essential components of management.

• #65 Albinism: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1200472-overview

  Patients with albinism have a normal lifespan but there is an increased risk for skin cancer, and preventive measures are recommended for UV exposure. Genetic counseling is recommended for patients with albinism. […] The main goals of patient education are to determine which type of albinism is present; to exclude systemic syndromes (eg, HPS, CHS); to avoid excess sun exposure; and to provide genetic counseling for the family.

• #66 Albinism – EyeWiki

  https://eyewiki.org/Albinism

  A medical exam to evaluate for the presence of a systemic syndrome is warranted in high-risk populations or when a history of bleeding, easy bruising, or previous bacterial infections is uncovered. […] Patients with albinism are at higher risk for squamous cell and basal cell cancers in sun-exposed areas, and thus should be strongly encouraged to limit their sun exposure through avoiding outdoor occupations and through using sun-protective products such as appropriate clothing, large-brim hats, sunglasses, and sunscreen agents. […] As with other heritable conditions, genetic testing and counseling support may offer invaluable support for families faced with this condition. […] With proper secondary prevention and supportive care for UV protection, the risk of skin cancer may be drastically reduced.

• #67 Pró-Albino Program: Prevention, Diagnosis and Treatment of Actinic Skin Damage, Emotional Support and Social Inclusion in Albinism . Inspire Skin Confidence

  https://www.inspireskinconfidence.com/project/pro-albino-program-prevention-diagnosis-and-treatment-of-actinic-skin-damage-emotional-support-and-social-inclusion-in-albinism/

  In addition, all albino patients and their families receive information leaflets on the pathology and on measures to prevent skin damage. […] The grant would fund the genetic analysis of the patients involved in the program (funding a pilot project) and make the technology available in hospital. It would advance the molecular research on this disease in Brazil.

• #68 App aims to offer resources to people with albinism

  https://www.nature.com/articles/d44148-023-00179-z

  A new app for people with albinism offers resources about the condition, from raising awareness about the importance of appropriate UV protection, building resilience and self-confidence in the face of discrimination. […] If both parents carry the defective gene, a child has a 25% chance of having albinism, needing treatment for visual impairment and extra protection from UV light to prevent skin cancer. […] In support, a book called Albinism just a gene was produced for school children and a new website set up, to highlight the genetic principles of pigmentation in people, including those with albinism. […] Further efforts in basic scientific research are needed to get a greater mechanistic understanding on albinism, considering its clinical and genetic subtypes with broad phenotypic heterogeneity.

• #69 Albinism: for patients – Gene Vision

  https://gene.vision/knowledge-base/albinism-for-patients/

  Treatment with medications such as gabapentin or memantine have been shown to improve vision by reducing the extent of nystagmus, but data of their usage in children is lacking. […] In addition to paediatricians and eye doctors, other medical professionals such as haematologists, respiratory doctors and/or gastroenterologists are usually involved in the care of patients affected by Hermansky-Pudlak and Chediak-Higashi syndromes so that detailed assessment and treatment can be started as soon as possible. […] Furthermore, visual impairment can have a negative impact on a child’s early general development. Therefore, timely referral to practitioners familiar with developmental surveillance and intervention for children with visual impairment (VI), such as developmental paediatricians as well as a Qualified Teacher of children and young people with Visual Impairment (QTVI) is crucial to optimise their developmental potential.

• #70 Albinism | Hypopigmentation – Types Symptoms Diagnosis Treatment FAQs

  https://www.medindia.net/health/conditions/albinism.htm

  Albinism may cause social problems, because people with albinism look different from their families, peers, and other members of their ethnic group. […] There is no known way to prevent albinism. Genetic counseling should be considered for individuals with a family history of albinism or hypopigmentation. […] It is important that albinos use sunscreen before sun exposure to prevent premature skin aging or skin cancer.

• #71 Albinism – symptoms, diagnosis and support | healthdirect

  https://www.healthdirect.gov.au/albinism

  Albinism is a group of genetic conditions in which a person has no or very little melanin pigment in their skin, hair and eyes. Albinism occurs in all racial and ethnic groups throughout the world. In Australia, about 1 in 17,000 people have some type of albinism. […] It is important for people with albinism to protect their skin and eyes from the sun and have their eyes checked regularly. […] People with albinism have a higher risk than others of sunburn, skin problems and skin cancer. Australia’s sunny climate means that good sun protection for the skin is essential, as well as sunglasses to protect the eyes. […] The Albinism Fellowship of Australia provides support and education to people with albinism, parents of children with albinism, and their families and friends.

• #72 App aims to offer resources to people with albinism

  https://www.nature.com/articles/d44148-023-00179-z

  A new app for people with albinism offers resources about the condition, from raising awareness about the importance of appropriate UV protection, building resilience and self-confidence in the face of discrimination. […] If both parents carry the defective gene, a child has a 25% chance of having albinism, needing treatment for visual impairment and extra protection from UV light to prevent skin cancer. […] In support, a book called Albinism just a gene was produced for school children and a new website set up, to highlight the genetic principles of pigmentation in people, including those with albinism. […] Further efforts in basic scientific research are needed to get a greater mechanistic understanding on albinism, considering its clinical and genetic subtypes with broad phenotypic heterogeneity.

• #73 Current and emerging treatments for albinism – PubMed

  https://pubmed.ncbi.nlm.nih.gov/33129801/

  Albinism is a group of rare inherited disorders arising from impairment of melanin biosynthesis. The reduction of melanin synthesis leads to hypopigmentation of the skin and eyes. Currently, albinism is incurable, and treatment aims either surgically or pharmacologically to optimize vision and protect the skin; however, novel therapies that aim to directly address the molecular errors of albinism, such as l-dihydroxyphenylalanine and nitisinone, are being developed and have entered human trials though with limited success. […] Experimental gene-based strategies for editing the genetic errors in albinism have also met early success in animal models. The emergence of these new therapeutic modalities represents a new era in the management of albinism. We focus on the known genetic subtypes, clinical assessment, and existing and emerging therapeutic options for the nonsyndromic forms of albinism.

• #74 Family

  https://patents.google.com/patent/US8822540B2/en

  Nitisinone is an FDA-approved drug used in the treatment of tyrosinemia, type 1. The drug blocks the normal degradation pathway of tyrosine, thus allowing greater circulating plasma levels of tyrosine. […] The present invention provides a method for increasing tyrosine plasma concentrations in a subject suffering from oculocutaneous albinism, the method comprising administering to the subject a pharmaceutically acceptable composition comprising NTBC in a therapeutically effective amount. […] An effective amount of NTBC is the amount administered to a subject that results in plasma concentrations of tyrosine in the subject increasing from about 7 micromolar (M) to about 2 millimolar (mM). […] The present invention provides a method for treating impaired vision in a subject suffering from oculocutaneous albinism, or ocular albinism, the method comprising administering to the subject a pharmaceutically acceptable composition comprising NTBC in a therapeutically effective amount.

• #75 Treatment of Oculocutaneous/Ocular Albinism and for Increasing PigmentationTreatment of Oculocutaneous/Ocular Albinism and for Increasing PigmentationTreatment of Oculocutaneous/Ocular Albinism and for Increasing Pigmentation

  https://techtransfer.cancer.gov/available-technologies?abstract=TAB-3958

  Albinism (also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect in any one of a number of proteins involved in the production of melanin. […] Current treatment options for vision problems caused by albinism are limited to correction of refractive errors and amblyopia, low vision aids, and (in some cases) extraocular muscle surgery. […] Nitisinone (NTBC) is an FDA-approved drug used in the treatment of tyrosinemia, type 1. The drug blocks the normal degradation pathway of tyrosine thus allowing greater circulating plasma levels of tyrosine. NEI investigators identified administration of NTBC to subjects (e.g., mice or humans) with certain forms of albinism, can result in increased circulating tyrosine levels, an increase in tyrosinase activity, and, subsequently, increased pigmentation. Co-development research agreements with companies are sought to advance this treatment to humans.

• #76 Family

  https://patents.google.com/patent/US8822540B2/en

  Nitisinone is an FDA-approved drug used in the treatment of tyrosinemia, type 1. The drug blocks the normal degradation pathway of tyrosine, thus allowing greater circulating plasma levels of tyrosine. […] The present invention provides a method for increasing tyrosine plasma concentrations in a subject suffering from oculocutaneous albinism, the method comprising administering to the subject a pharmaceutically acceptable composition comprising NTBC in a therapeutically effective amount. […] An effective amount of NTBC is the amount administered to a subject that results in plasma concentrations of tyrosine in the subject increasing from about 7 micromolar (M) to about 2 millimolar (mM). […] The present invention provides a method for treating impaired vision in a subject suffering from oculocutaneous albinism, or ocular albinism, the method comprising administering to the subject a pharmaceutically acceptable composition comprising NTBC in a therapeutically effective amount.

• #77 Family

  https://patents.google.com/patent/US8822540B2/en

  The present invention provides a method for increasing pigmentation in the eyes, hair and/or skin of a subject, the method comprising administering to the subject a pharmaceutically acceptable composition comprising NTBC in a therapeutically effective amount such that the plasma concentrations of tyrosine in the subject are increased to an amount sufficient to increase visually discernable pigmentation in the subject. […] The methods disclosed herein are not limited to oculocutaneous albinism, or ocular albinism, but can be used for subjects having other forms of albinism, including, but not limited to, for example, albinism which results from mutations in the microtubulin associated protein tau (MATP, OCA4) gene, the P protein gene (OCA2). […] The present invention provides a pharmaceutical composition comprising 2-(-2-nitro-4 trifluoromethylbenzoyl)-1,3 cyclohexanedione (NTBC) or a pharmaceutically acceptable salt, hydrate, or solvate thereof, wherein the composition includes a pharmaceutically and physiologically acceptable carrier, in an amount effective for use in a medicament, preferably for use as a medicament for treating impaired vision in the eyes of a subject suffering from oculocutaneous albinism, or for use as a medicament for increasing pigmentation in the eyes, hair, or skin of a subject, when administered to the subject in an effective amount.

• #78 Family

  https://patents.google.com/patent/US8822540B2/en

  The present invention provides a method for increasing pigmentation in the eyes, hair and/or skin of a subject, the method comprising administering to the subject a pharmaceutically acceptable composition comprising NTBC in a therapeutically effective amount such that the plasma concentrations of tyrosine in the subject are increased to an amount sufficient to increase visually discernable pigmentation in the subject. […] The methods disclosed herein are not limited to oculocutaneous albinism, or ocular albinism, but can be used for subjects having other forms of albinism, including, but not limited to, for example, albinism which results from mutations in the microtubulin associated protein tau (MATP, OCA4) gene, the P protein gene (OCA2). […] The present invention provides a pharmaceutical composition comprising 2-(-2-nitro-4 trifluoromethylbenzoyl)-1,3 cyclohexanedione (NTBC) or a pharmaceutically acceptable salt, hydrate, or solvate thereof, wherein the composition includes a pharmaceutically and physiologically acceptable carrier, in an amount effective for use in a medicament, preferably for use as a medicament for treating impaired vision in the eyes of a subject suffering from oculocutaneous albinism, or for use as a medicament for increasing pigmentation in the eyes, hair, or skin of a subject, when administered to the subject in an effective amount.

• #79 Vitiligo, Melasma, PIH, and Albinism: Clinical Update and Emerging Therapies

  https://www.dermatologytimes.com/view/vitiligo-melasma-pih-and-albinism-clinical-update-and-emerging-therapies

  Oculocutaneous albinism (OCA) comprises rare, inherited disorders of reduced melanin biosynthesis, manifesting in hypopigmentation of skin, eyes, and hair, and ocular issues such as decreased visual acuity and nystagmus. Currently, albinism is incurable, and treatment aims either surgically or pharmacologically to optimize vision and protect the skin. […] Although emerging therapies that aim to directly address the underlying molecular defects, such as l-dihydroxyphenylalanine and nitisinone, are being developed and have entered human trials, clinical success has been limited. A 1-year pilot study on nitisinone in OCA-1B patients showed potential increases in hair and skin pigmentation, though iris melanin content remained unchanged. Importantly, the significantly elevated skin cancer risk in OCA requires vigilant dermatologic care. Early pediatric dermatology referral, parental education on skin protection and cancer prevention, and a low threshold for biopsy of suspicious lesions are crucial for early detection and improved patient outcomes.

• #80 Ocular albinism treatments and support

  https://www.medicalnewstoday.com/articles/ocular-albinism-treatment

  In some cases, extraocular muscle surgery may help treat strabismus or other issues associated with ocular albinism. […] A 2021 review states that some of the newer treatments for albinism may include drugs such as l-dihydroxyphenylalanine and nitisinone. […] Further studies in humans are necessary to determine the effects of these newer drugs, as they may be a promising treatment for ocular albinism. […] While there is no cure for ocular albinism, treatments can help manage associated symptoms and improve vision. […] Doctors may also offer corrective surgery in some cases for ocular albinism. More research into other treatments is necessary.

• #81 TYROSINASE Gene Therapy for Oculocutaneous Albinism type 1ATYROSINASE Gene Therapy for Oculocutaneous Albinism type 1ATYROSINASE Gene Therapy for Oculocutaneous Albinism type 1A

  https://techtransfer.cancer.gov/available-technologies?abstract=TAB-4991

  The National Eye Institute seeks research co-development partners and/or licensees for an adeno-associated viral gene therapy for Oculocutaneous Albinism type 1A. […] Currently, there is no treatment. […] Scientist at the National Eye Institute (NEI) have developed a gene therapy method for inducing pigmentation in human subjects who have OCA1A by administering the normal copy of human Tyrosinase via an adeno-associated viral (AAV) vector. […] Researchers at the NEI seek licensing and/or co-development research collaborations for an adeno-associated viral gene therapy for Oculocutaneous Albinism type 1A.

• #82 Current and emerging treatments for albinism – PubMed

  https://pubmed.ncbi.nlm.nih.gov/33129801/

  Albinism is a group of rare inherited disorders arising from impairment of melanin biosynthesis. The reduction of melanin synthesis leads to hypopigmentation of the skin and eyes. Currently, albinism is incurable, and treatment aims either surgically or pharmacologically to optimize vision and protect the skin; however, novel therapies that aim to directly address the molecular errors of albinism, such as l-dihydroxyphenylalanine and nitisinone, are being developed and have entered human trials though with limited success. […] Experimental gene-based strategies for editing the genetic errors in albinism have also met early success in animal models. The emergence of these new therapeutic modalities represents a new era in the management of albinism. We focus on the known genetic subtypes, clinical assessment, and existing and emerging therapeutic options for the nonsyndromic forms of albinism.

• #83 TYROSINASE Gene Therapy for Oculocutaneous Albinism type 1ATYROSINASE Gene Therapy for Oculocutaneous Albinism type 1ATYROSINASE Gene Therapy for Oculocutaneous Albinism type 1A

  https://techtransfer.cancer.gov/available-technologies?abstract=TAB-4991

  The National Eye Institute seeks research co-development partners and/or licensees for an adeno-associated viral gene therapy for Oculocutaneous Albinism type 1A. […] Currently, there is no treatment. […] Scientist at the National Eye Institute (NEI) have developed a gene therapy method for inducing pigmentation in human subjects who have OCA1A by administering the normal copy of human Tyrosinase via an adeno-associated viral (AAV) vector. […] Researchers at the NEI seek licensing and/or co-development research collaborations for an adeno-associated viral gene therapy for Oculocutaneous Albinism type 1A.

• #84 Model to study oculocutaneous albinism eye conditions developed

  https://www.drugtargetreview.com/news/101117/model-to-study-oculocutaneous-albinism-eye-conditions-developed/

  Researchers at the US National Eye Institute (NEI) have developed the first patient-derived stem cell model for studying eye conditions related to oculocutaneous albinism (OCA). […] A human stem cell model that mimics the disease is an important step forward in understanding albinism and testing potential therapies to treat it. […] The researchers say they will use the model to study how lack of pigmentation affects RPE physiology and function. In theory, if fovea development is dependent on RPE pigmentation and pigmentation can be somehow improved, vision defects associated with abnormal fovea development could be at least partially resolved. […] Treating albinism at a very young age, perhaps even prenatally, when the eyes structures are forming, would have the greatest chance of rescuing vision, said Brooks.

• #85 Model to study oculocutaneous albinism eye conditions developed

  https://www.drugtargetreview.com/news/101117/model-to-study-oculocutaneous-albinism-eye-conditions-developed/

  Researchers at the US National Eye Institute (NEI) have developed the first patient-derived stem cell model for studying eye conditions related to oculocutaneous albinism (OCA). […] A human stem cell model that mimics the disease is an important step forward in understanding albinism and testing potential therapies to treat it. […] The researchers say they will use the model to study how lack of pigmentation affects RPE physiology and function. In theory, if fovea development is dependent on RPE pigmentation and pigmentation can be somehow improved, vision defects associated with abnormal fovea development could be at least partially resolved. […] Treating albinism at a very young age, perhaps even prenatally, when the eyes structures are forming, would have the greatest chance of rescuing vision, said Brooks.

• #86 Model to study oculocutaneous albinism eye conditions developed

  https://www.drugtargetreview.com/news/101117/model-to-study-oculocutaneous-albinism-eye-conditions-developed/

  Researchers at the US National Eye Institute (NEI) have developed the first patient-derived stem cell model for studying eye conditions related to oculocutaneous albinism (OCA). […] A human stem cell model that mimics the disease is an important step forward in understanding albinism and testing potential therapies to treat it. […] The researchers say they will use the model to study how lack of pigmentation affects RPE physiology and function. In theory, if fovea development is dependent on RPE pigmentation and pigmentation can be somehow improved, vision defects associated with abnormal fovea development could be at least partially resolved. […] Treating albinism at a very young age, perhaps even prenatally, when the eyes structures are forming, would have the greatest chance of rescuing vision, said Brooks.

• #87 Model to study oculocutaneous albinism eye conditions developed

  https://www.drugtargetreview.com/news/101117/model-to-study-oculocutaneous-albinism-eye-conditions-developed/

  Researchers at the US National Eye Institute (NEI) have developed the first patient-derived stem cell model for studying eye conditions related to oculocutaneous albinism (OCA). […] A human stem cell model that mimics the disease is an important step forward in understanding albinism and testing potential therapies to treat it. […] The researchers say they will use the model to study how lack of pigmentation affects RPE physiology and function. In theory, if fovea development is dependent on RPE pigmentation and pigmentation can be somehow improved, vision defects associated with abnormal fovea development could be at least partially resolved. […] Treating albinism at a very young age, perhaps even prenatally, when the eyes structures are forming, would have the greatest chance of rescuing vision, said Brooks.

• #88 Model to study oculocutaneous albinism eye conditions developed

  https://www.drugtargetreview.com/news/101117/model-to-study-oculocutaneous-albinism-eye-conditions-developed/

  The team say they are now exploring how to use their model for high-throughput screening of potential OCA therapies. […] This disease-in-a-dish system will help us understand how the absence of pigment in albinism leads to abnormal development of the retina, optic nerve fibres and other eye structures crucial for central vision, said Dr Aman George, the lead author of the paper.

• #89 Prevention and management of skin cancer for albinism sufferers

  https://www.fondationpierrefabre.org/en/our-programmes/tropical-dermatology/prevention-management-skin-cancers-albinism/

  The risks of developing skin cancer and skin disorders are extremely high and studies suggest that most people with albinism die from skin cancer between the ages of 30 and 40. […] Still, these dramatic consequences are, to a great degree, preventable: simple means, such as using sunscreen and wearing appropriate clothing, can prevent these cancers. […] The Fondation Pierre Fabre put out a call for proposals to about thirty associations in Africa to strengthen programmes supporting information, early detection and medical care for people with albinism. […] Organise the prevention of skin cancers. […] Raise awareness among patients, families and communities. […] Studies estimate that the majority die of skin cancer between the ages of 30 and 40. […] This report brings you details of the cancer awareness, prevention and care initiatives rolled out in Tanzania.

• #90 Prevention and treatment for people with albinism – Fondation Pierre Fabre

  https://www.fondationpierrefabre.org/en/our-programmes/tropical-dermatology/prevention-and-treatment-for-people-with-albinism/

  Implementation of a treatment pathway to help people with albinism in Cte dIvoire was initiated via the Fondation Pierre Fabres call for projects presented at the second African Teledermatology Conference in 2019. […] The prevention and treatment programme for people with albinism in Cte dIvoire follows the roll-out that began in 2016 of a number of similar projects in five African countries: Tanzania, Malawi, Mali, Burkina Faso and Togo. […] Prevention through creation of a local sunscreen production unit and supply of protective clothing and eye protection. […] Produce and distribute sunscreen. […] Skin cancer is a major risk for albinos, but the number of dermatologists in Africa is far insufficient. The Foundation takes action. […] Skin cancer is a major risk for albinos, but the number of dermatologists in Africa is far insufficient. The Foundation takes action.

• #91 Prevention and treatment for people with albinism – Fondation Pierre Fabre

  https://www.fondationpierrefabre.org/en/our-programmes/tropical-dermatology/prevention-and-treatment-for-people-with-albinism/

  Implementation of a treatment pathway to help people with albinism in Cte dIvoire was initiated via the Fondation Pierre Fabres call for projects presented at the second African Teledermatology Conference in 2019. […] The prevention and treatment programme for people with albinism in Cte dIvoire follows the roll-out that began in 2016 of a number of similar projects in five African countries: Tanzania, Malawi, Mali, Burkina Faso and Togo. […] Prevention through creation of a local sunscreen production unit and supply of protective clothing and eye protection. […] Produce and distribute sunscreen. […] Skin cancer is a major risk for albinos, but the number of dermatologists in Africa is far insufficient. The Foundation takes action. […] Skin cancer is a major risk for albinos, but the number of dermatologists in Africa is far insufficient. The Foundation takes action.

• #92 Prevention and management of skin cancer for albinism sufferers

  https://www.fondationpierrefabre.org/en/our-programmes/tropical-dermatology/prevention-management-skin-cancers-albinism/

  The risks of developing skin cancer and skin disorders are extremely high and studies suggest that most people with albinism die from skin cancer between the ages of 30 and 40. […] Still, these dramatic consequences are, to a great degree, preventable: simple means, such as using sunscreen and wearing appropriate clothing, can prevent these cancers. […] The Fondation Pierre Fabre put out a call for proposals to about thirty associations in Africa to strengthen programmes supporting information, early detection and medical care for people with albinism. […] Organise the prevention of skin cancers. […] Raise awareness among patients, families and communities. […] Studies estimate that the majority die of skin cancer between the ages of 30 and 40. […] This report brings you details of the cancer awareness, prevention and care initiatives rolled out in Tanzania.

• #93 Skin Cancer Prevention & Treatment | Advantage Africa

  https://www.advantageafrica.org/skin-cancer

  Lacking the protective pigment melanin in their skin, people with albinism in Uganda are extremely vulnerable to severe sunburn, solar elastosis (wrinkling) actinic chelitis (sore and rough lips at risk of turning cancerous) and solar keratoses (rough areas which can also turn into cancer). […] These untimely deaths are completely avoidable if people with albinism have sun protection resources and know how to use them. Advantage Africa and SNUPA, working in partnership with Ultrasun UK, are determined to work towards the eradication of skin cancer amongst people with albinism across Uganda. […] High sun protection factor (SPF) sunscreen is inaccessible or prohibitively expensive in Uganda. We have therefore worked with the Governments Revenue Authority to ensure that vital supplies of sunscreen for people with albinism can be imported tax and duty free. […] Support is urgently needed for our skin cancer treatment fund so that we can help people to receive the care they need.

• #94 Skin Cancer Prevention & Treatment | Advantage Africa

  https://www.advantageafrica.org/skin-cancer

  Lacking the protective pigment melanin in their skin, people with albinism in Uganda are extremely vulnerable to severe sunburn, solar elastosis (wrinkling) actinic chelitis (sore and rough lips at risk of turning cancerous) and solar keratoses (rough areas which can also turn into cancer). […] These untimely deaths are completely avoidable if people with albinism have sun protection resources and know how to use them. Advantage Africa and SNUPA, working in partnership with Ultrasun UK, are determined to work towards the eradication of skin cancer amongst people with albinism across Uganda. […] High sun protection factor (SPF) sunscreen is inaccessible or prohibitively expensive in Uganda. We have therefore worked with the Governments Revenue Authority to ensure that vital supplies of sunscreen for people with albinism can be imported tax and duty free. […] Support is urgently needed for our skin cancer treatment fund so that we can help people to receive the care they need.

• #95 Pró-Albino Program: Prevention, Diagnosis and Treatment of Actinic Skin Damage, Emotional Support and Social Inclusion in Albinism . Inspire Skin Confidence

  https://www.inspireskinconfidence.com/project/pro-albino-program-prevention-diagnosis-and-treatment-of-actinic-skin-damage-emotional-support-and-social-inclusion-in-albinism/

  Dr. Carolina Reato Maron Brazil […] Epidemiological data on albinism in Brazil are not available, but the number of people living with albinism is substantial. The dermatology department of Santa Casa de Misericrdia Hospital recorded a high incidence of advanced skin cancers and actinic damage in albino patients. As a direct result, the department decided to set up a program to provide effective interventions for the prevention and early management of skin cancer, and to provide emotional and social support to albino patients. […] The Pr-Albino program was launched in 2010 at the Santa Casa de Misericrdia Hospital in So Paulo, by the Department of Dermatology and the Department of Ophthalmology. Its objectives include: Reducing the physical scars of albinism through the prevention and early detection of dermatological diseases that occur in albino patients, Diagnosing ophthalmological changes, Conducting appropriate interventions.

• #96 Pró-Albino Program: Prevention, Diagnosis and Treatment of Actinic Skin Damage, Emotional Support and Social Inclusion in Albinism . Inspire Skin Confidence

  https://www.inspireskinconfidence.com/project/pro-albino-program-prevention-diagnosis-and-treatment-of-actinic-skin-damage-emotional-support-and-social-inclusion-in-albinism/

  Dr. Carolina Reato Maron Brazil […] Epidemiological data on albinism in Brazil are not available, but the number of people living with albinism is substantial. The dermatology department of Santa Casa de Misericrdia Hospital recorded a high incidence of advanced skin cancers and actinic damage in albino patients. As a direct result, the department decided to set up a program to provide effective interventions for the prevention and early management of skin cancer, and to provide emotional and social support to albino patients. […] The Pr-Albino program was launched in 2010 at the Santa Casa de Misericrdia Hospital in So Paulo, by the Department of Dermatology and the Department of Ophthalmology. Its objectives include: Reducing the physical scars of albinism through the prevention and early detection of dermatological diseases that occur in albino patients, Diagnosing ophthalmological changes, Conducting appropriate interventions.

• #97 Pró-Albino Program: Prevention, Diagnosis and Treatment of Actinic Skin Damage, Emotional Support and Social Inclusion in Albinism . Inspire Skin Confidence

  https://www.inspireskinconfidence.com/project/pro-albino-program-prevention-diagnosis-and-treatment-of-actinic-skin-damage-emotional-support-and-social-inclusion-in-albinism/

  In addition, all albino patients and their families receive information leaflets on the pathology and on measures to prevent skin damage. […] The grant would fund the genetic analysis of the patients involved in the program (funding a pilot project) and make the technology available in hospital. It would advance the molecular research on this disease in Brazil.

• #98 Programs | Peacemakers for Albinism and Community

  https://www.albinism-tz.org/programs-1

  We work with communities to promote understanding and inclusion of people with albinism at the grassroots level, reducing stigma and mobilizing the active involvement of faith communities, schools, and local government. […] Advanced education and vocational training for indoor work provide a persons with albinism a foundation to support themselves and their families without dangerous sun exposure. […] Our skin cancer prevention training for people with albinism and local healthcare providers promotes prevention and early, life-saving treatment. […] Basic education of children with albinism at integrated boarding schools ensures safety and promotes inclusion.

• #99 Programs | Peacemakers for Albinism and Community

  https://www.albinism-tz.org/programs-1

  We work with communities to promote understanding and inclusion of people with albinism at the grassroots level, reducing stigma and mobilizing the active involvement of faith communities, schools, and local government. […] Advanced education and vocational training for indoor work provide a persons with albinism a foundation to support themselves and their families without dangerous sun exposure. […] Our skin cancer prevention training for people with albinism and local healthcare providers promotes prevention and early, life-saving treatment. […] Basic education of children with albinism at integrated boarding schools ensures safety and promotes inclusion.

• #100 Albinism and Human Rights | United Nations

  https://www.un.org/en/observances/albinism-day/albinism-and-human-rights

  The United Nations Human Rights Council adopted a resolution in 2013 (A/HRC/RES/23/13) calling for the prevention of attacks and discrimination against persons with albinism. […] The Ugandan Government has recognised albinism as a disability. This has has led to the development of a national action plan. The plan, developed with the assistance of UN Human Rights, provides better assistance in all sectors from health to education. […] In a bid to protect this vulnerable group, the Tanzanian government has resolved to round up children with the condition in 13 centres throughout the country.

• #101 Resolution on the prevention of attacks and discrimination against persons with albinism – ACHPR/Res.263(LIV)2013 | African Commission on Human and Peoples’ Rights

  https://achpr.au.int/index.php/en/adopted-resolutions/263-resolution-prevention-attacks-and-discrimination-against-persons

  1. Urges State Parties to take all measures necessary to ensure the effective protection of persons with albinism and members of their families; […] 2. Calls upon State Parties to ensure accountability through the conduct of impartial, speedy and effective investigations into attacks against persons with albinism, the prosecution of those responsible, and by ensuring that victims and members of their families have access to appropriate remedies; […] 3. Also calls upon State Parties to take effective measures to eliminate all forms of discrimination against persons with albinism, and to increase education and public awareness-raising activities; […] 4. Requests State Parties to include in their reports submitted to the African Commission under Article 62 of the African Charter information on the situation of persons with albinism including good practices in protecting and promoting the rights of persons with albinism;

• #102 Resolution on the prevention of attacks and discrimination against persons with albinism – ACHPR/Res.263(LIV)2013 | African Commission on Human and Peoples’ Rights

  https://achpr.au.int/index.php/en/adopted-resolutions/263-resolution-prevention-attacks-and-discrimination-against-persons

  1. Urges State Parties to take all measures necessary to ensure the effective protection of persons with albinism and members of their families; […] 2. Calls upon State Parties to ensure accountability through the conduct of impartial, speedy and effective investigations into attacks against persons with albinism, the prosecution of those responsible, and by ensuring that victims and members of their families have access to appropriate remedies; […] 3. Also calls upon State Parties to take effective measures to eliminate all forms of discrimination against persons with albinism, and to increase education and public awareness-raising activities; […] 4. Requests State Parties to include in their reports submitted to the African Commission under Article 62 of the African Charter information on the situation of persons with albinism including good practices in protecting and promoting the rights of persons with albinism;

• #103 Resolution on the prevention of attacks and discrimination against persons with albinism – ACHPR/Res.263(LIV)2013 | African Commission on Human and Peoples’ Rights

  https://achpr.au.int/index.php/en/adopted-resolutions/263-resolution-prevention-attacks-and-discrimination-against-persons

  5. Invites State Parties to promote, in collaboration with relevant regional and international organizations, bilateral, regional and international initiatives aimed at protecting persons with albinism; […] 6. Invites its special mechanisms, as part of their respective mandates, to address the relevant aspects of the safety and non-discrimination of persons with albinism; and […] 7. Invites its Working Group on Older Persons and People with Disabilities to include guarantees of the rights of persons with albinism in the envisaged Draft Protocol to the African Charter on Human and Peoples Rights on the Rights of People with Disabilities in Africa.

• #104 App aims to offer resources to people with albinism

  https://www.nature.com/articles/d44148-023-00179-z

  A new app for people with albinism offers resources about the condition, from raising awareness about the importance of appropriate UV protection, building resilience and self-confidence in the face of discrimination. […] If both parents carry the defective gene, a child has a 25% chance of having albinism, needing treatment for visual impairment and extra protection from UV light to prevent skin cancer. […] In support, a book called Albinism just a gene was produced for school children and a new website set up, to highlight the genetic principles of pigmentation in people, including those with albinism. […] Further efforts in basic scientific research are needed to get a greater mechanistic understanding on albinism, considering its clinical and genetic subtypes with broad phenotypic heterogeneity.

• #105 App aims to offer resources to people with albinism

  https://www.nature.com/articles/d44148-023-00179-z

  A new app for people with albinism offers resources about the condition, from raising awareness about the importance of appropriate UV protection, building resilience and self-confidence in the face of discrimination. […] If both parents carry the defective gene, a child has a 25% chance of having albinism, needing treatment for visual impairment and extra protection from UV light to prevent skin cancer. […] In support, a book called Albinism just a gene was produced for school children and a new website set up, to highlight the genetic principles of pigmentation in people, including those with albinism. […] Further efforts in basic scientific research are needed to get a greater mechanistic understanding on albinism, considering its clinical and genetic subtypes with broad phenotypic heterogeneity.

• #106 🌍✨ On… – UN Albinism: Muluka-Anne Miti-DrummondFacebookShared with Public

  https://www.facebook.com/unalbinism/posts/-on-worldhealthday-we-stand-with-persons-with-albinism-to-prevent-skin-cancer-th/1207276057431896/

  On #WorldHealthDay, we stand with persons with albinism to prevent skin cancer. This year’s International Albinism Awareness Day theme, „Demanding our rights: Protect our skin, Preserve our lives,” reminds us of the importance of regularly using sunscreen, wearing protective clothing, and scheduling routine skin checks. […] Let’s protect lives together!

• #107 🌍✨ On… – UN Albinism: Muluka-Anne Miti-DrummondFacebookShared with Public

  https://www.facebook.com/unalbinism/posts/-on-worldhealthday-we-stand-with-persons-with-albinism-to-prevent-skin-cancer-th/1207276057431896/

  On #WorldHealthDay, we stand with persons with albinism to prevent skin cancer. This year’s International Albinism Awareness Day theme, „Demanding our rights: Protect our skin, Preserve our lives,” reminds us of the importance of regularly using sunscreen, wearing protective clothing, and scheduling routine skin checks. […] Let’s protect lives together!

• #108 Albinism – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519018/

  Albinism is a group of heritable conditions associated with decreased or absent melanin in ectoderm-derived tissues (most notably the skin, hair, and eyes), yielding a characteristic decrease in skin pigmentation. Patients with albinism are particularly susceptible to solar damage, and these patients must utilize lifelong sun protection precautions. […] These patients should be educated on avoidance of prolonged UV light exposure and avoidance of medications that increase photosensitivity. […] There is no substitute for lifelong sun protection in albinism, and the importance cannot be overestimated. Subjects should be educated on avoidance of prolonged UV light exposure (sun, tanning beds) and avoidance of medications that increase photosensitivity. […] Lifelong, periodic skin examinations (once to twice per year) with dermatology for early detection and treatment of skin cancers. […] Early consultation to ophthalmology and dermatology, as mentioned above. Family referral to geneticist may be beneficial.

• #109 Providing Patients With Multidisciplinary, Preventative Care in the Management of Albinism

  https://www.dermatologytimes.com/view/providing-patients-with-multidisciplinary-preventative-care-in-the-management-of-albinism

  Though albinism impacts pigmentation of the skin, as well as the nails and eyes, dermatologists cannot „treat” patients with albinism. There is no way to treat or prevent the lack of skin pigmentation. […] However, it is crucial that dermatology clinicians engage in preventative and multidisciplinary care. […] Emphasize the importance of sun protection to your patients with albinism, even more than is typical with otherwise healthy individuals. Advise them to use sunscreen with a sun protection factor of at least 30, ensuring it offers broad-spectrum protection against both UVA and UVB rays. Alongside sunscreen, patients should be cautioned against prolonged sun exposure, particularly during peak UV radiation times, such as midday, and in high-risk environments like high altitudes or areas near water.

• #110 Albinism – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519018/

  Albinism is a group of heritable conditions associated with decreased or absent melanin in ectoderm-derived tissues (most notably the skin, hair, and eyes), yielding a characteristic decrease in skin pigmentation. Patients with albinism are particularly susceptible to solar damage, and these patients must utilize lifelong sun protection precautions. […] These patients should be educated on avoidance of prolonged UV light exposure and avoidance of medications that increase photosensitivity. […] There is no substitute for lifelong sun protection in albinism, and the importance cannot be overestimated. Subjects should be educated on avoidance of prolonged UV light exposure (sun, tanning beds) and avoidance of medications that increase photosensitivity. […] Lifelong, periodic skin examinations (once to twice per year) with dermatology for early detection and treatment of skin cancers. […] Early consultation to ophthalmology and dermatology, as mentioned above. Family referral to geneticist may be beneficial.

• #111 Providing Patients With Multidisciplinary, Preventative Care in the Management of Albinism

  https://www.dermatologytimes.com/view/providing-patients-with-multidisciplinary-preventative-care-in-the-management-of-albinism

  Though albinism impacts pigmentation of the skin, as well as the nails and eyes, dermatologists cannot „treat” patients with albinism. There is no way to treat or prevent the lack of skin pigmentation. […] However, it is crucial that dermatology clinicians engage in preventative and multidisciplinary care. […] Emphasize the importance of sun protection to your patients with albinism, even more than is typical with otherwise healthy individuals. Advise them to use sunscreen with a sun protection factor of at least 30, ensuring it offers broad-spectrum protection against both UVA and UVB rays. Alongside sunscreen, patients should be cautioned against prolonged sun exposure, particularly during peak UV radiation times, such as midday, and in high-risk environments like high altitudes or areas near water.

• #112 Providing Patients With Multidisciplinary, Preventative Care in the Management of Albinism

  https://www.dermatologytimes.com/view/providing-patients-with-multidisciplinary-preventative-care-in-the-management-of-albinism

  Encouraging patients to wear protective clothing is another essential aspect of sun safety. Recommend garments that cover the skin, such as long-sleeved shirts, long pants, socks, and broad-brimmed hats. Clothes with built-in UV protection can offer additional security against harmful rays. […] Lastly, stress the importance of eye protection by suggesting dark, UV-blocking sunglasses or photochromic lenses, which adjust to varying light conditions, to shield their eyes from potential sun damage.

• #113 Albinism | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/albinism?content_id=CON-20369167

  If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. The counselor can explain the available genetic tests. […] Treatment focuses on getting proper eye care and monitoring skin for problems. Your care team may include your primary care provider, a specialist in eye care called an ophthalmologist and a specialist in skin care called a dermatologist. […] Skin care and prevention of skin cancer. This includes receiving a skin exam at least every year to screen for skin cancer or spots that can lead to cancer. An aggressive form of skin cancer called melanoma can appear as pink or red moles or growths. Moles or growths, with or without color especially ones that are pink or red and keep changing should be checked by a skin specialist right away.

• #114 Albinism – EyeWiki

  https://eyewiki.org/Albinism

  A medical exam to evaluate for the presence of a systemic syndrome is warranted in high-risk populations or when a history of bleeding, easy bruising, or previous bacterial infections is uncovered. […] Patients with albinism are at higher risk for squamous cell and basal cell cancers in sun-exposed areas, and thus should be strongly encouraged to limit their sun exposure through avoiding outdoor occupations and through using sun-protective products such as appropriate clothing, large-brim hats, sunglasses, and sunscreen agents. […] As with other heritable conditions, genetic testing and counseling support may offer invaluable support for families faced with this condition. […] With proper secondary prevention and supportive care for UV protection, the risk of skin cancer may be drastically reduced.

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