Materiały źródłowe

• #1 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. 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.

• #2 Albinism – Symptoms and causes – Mayo Clinic

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

  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. […] Albinism can include skin and eye complications. It also can include social and emotional challenges. […] 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.

• #3 Albinism – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/albinism/diagnosis-treatment/drc-20369189

  Albinism is a genetic disorder, and there is currently no cure. 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. […] A specialist in genetics can help identify the specific type of albinism. This information can help guide care, identify possible complications and determine the risk of the condition in future children. […] Treatment usually includes: […] Eye care. This includes receiving an eye exam at least every year by an ophthalmologist. You’ll likely need prescription lenses to help with visions problems. Although surgery is rarely part of treatment for eye problems related to albinism, your ophthalmologist may recommend surgery on eye muscles to reduce nystagmus. Surgery to correct strabismus may make the condition less noticeable.

• #4 Albinism Treatment & Management: Medical Care, Surgical Care, Consultations

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

  No potential effective treatment or cure exists for albinism, but the following may be helpful to improve quality of life in patients with albinism: […] Optimize visual acuity: it is essential to correct refractive error with spectacle correction or contact lenses and initiate patching/penalization for amblyopia as soon as possible. […] Low-vision aids: No one device can serve the needs of all patients in all situations. Young children may simply need glasses, whereas older children may require bifocals. Occasionally, telescopic lenses mounted on glasses (bioptics) are prescribed for close-up work and distance vision. […] Tinted glasses may be used to reduce photophobia. Some patients do not like tinted lenses; they may benefit from wearing a cap or visor when outdoors. […] Eye muscle surgery may be performed to correct strabismus not improved by glasses, and may also be indicated to reduce amplitude of nystagmus, and correct anomalies head position.

• #5 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. […] 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. […] Other low vision aids include handheld magnifiers and glasses with small telescopes, which may improve the ability to see. […] Absorptive sunglasses or contact lenses with color may help reduce light sensitivity that occurs with ocular albinism.

• #6 Albinism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17325

  Management of Eye Abnormalities […] Nystagmus naturally decreases over time. Additionally, individuals enact learn to adjust head posture to time the gaze position the yields the lowest nystagmic amplitude. This position is called the nystagmus null point. Eye muscle surgery can improve ocular alignment, improve head posture, and improve vision only in severe cases, but surgery may need to be repeated several times. Unless strabismus is severe, it is usually not necessary unless it is pursued for cosmetic reasons. Ophthalmic evaluation for optical correction 2 to 4 times per year (age 1 and 2), 1 to 3 times per year (age 3 to 6), annually (age 5 to 18), then every 2 to 3 years (adults). Refractive errors require treatment with corrective lenses, preferably by 4 to 6 months of age with frequent changes in prescriptions in the first years of life. Even with refractive correction, vision may never fully normalize because of irreversible foveal hypoplasia. Lenses that darken in sunlight help with photophobia but decrease vision. Lenses should have UV protection. Bifocals and low-vision aids may also be considered in older children and adults. Teaching aids and special classroom considerations (high contrast reading material, large print texts and worksheets, close-to-board seating, magnification settings on computers, among others) can help overcome the educational delays associated with visual deficits.

• #7 Albinism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17325

  Management of Eye Abnormalities […] Nystagmus naturally decreases over time. Additionally, individuals enact learn to adjust head posture to time the gaze position the yields the lowest nystagmic amplitude. This position is called the nystagmus null point. Eye muscle surgery can improve ocular alignment, improve head posture, and improve vision only in severe cases, but surgery may need to be repeated several times. Unless strabismus is severe, it is usually not necessary unless it is pursued for cosmetic reasons. Ophthalmic evaluation for optical correction 2 to 4 times per year (age 1 and 2), 1 to 3 times per year (age 3 to 6), annually (age 5 to 18), then every 2 to 3 years (adults). Refractive errors require treatment with corrective lenses, preferably by 4 to 6 months of age with frequent changes in prescriptions in the first years of life. Even with refractive correction, vision may never fully normalize because of irreversible foveal hypoplasia. Lenses that darken in sunlight help with photophobia but decrease vision. Lenses should have UV protection. Bifocals and low-vision aids may also be considered in older children and adults. Teaching aids and special classroom considerations (high contrast reading material, large print texts and worksheets, close-to-board seating, magnification settings on computers, among others) can help overcome the educational delays associated with visual deficits.

• #8 Albinism | Doctor

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

  Management is symptomatic, as the failed visual neural development cannot be corrected. Management aims at maximising useful vision through optometry. […] Astigmatism is the most common eye problem across all the subtypes, whilst there is a high frequency of hypermetropia in OCA1A patients. […] Corrected visual acuity ranges from 6/6 to 6/120, legally severely sight impaired. Near-normal vision is unusual even with glasses. […] Young children may simply need glasses and older children can sometimes benefit from bifocal glasses. […] Low vision clinics may prescribe telescopic lenses mounted on glasses, sometimes called bioptics, for close-up work as well as for distant vision. […] For nystagmus, eye muscle surgery can reduce the movement of the eyes. However, vision may not improve.

• #9 Albinism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17325

  Management of Eye Abnormalities […] Nystagmus naturally decreases over time. Additionally, individuals enact learn to adjust head posture to time the gaze position the yields the lowest nystagmic amplitude. This position is called the nystagmus null point. Eye muscle surgery can improve ocular alignment, improve head posture, and improve vision only in severe cases, but surgery may need to be repeated several times. Unless strabismus is severe, it is usually not necessary unless it is pursued for cosmetic reasons. Ophthalmic evaluation for optical correction 2 to 4 times per year (age 1 and 2), 1 to 3 times per year (age 3 to 6), annually (age 5 to 18), then every 2 to 3 years (adults). Refractive errors require treatment with corrective lenses, preferably by 4 to 6 months of age with frequent changes in prescriptions in the first years of life. Even with refractive correction, vision may never fully normalize because of irreversible foveal hypoplasia. Lenses that darken in sunlight help with photophobia but decrease vision. Lenses should have UV protection. Bifocals and low-vision aids may also be considered in older children and adults. Teaching aids and special classroom considerations (high contrast reading material, large print texts and worksheets, close-to-board seating, magnification settings on computers, among others) can help overcome the educational delays associated with visual deficits.

• #10 Albinism – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/albinism/diagnosis-treatment/drc-20369189

  Albinism is a genetic disorder, and there is currently no cure. 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. […] A specialist in genetics can help identify the specific type of albinism. This information can help guide care, identify possible complications and determine the risk of the condition in future children. […] Treatment usually includes: […] Eye care. This includes receiving an eye exam at least every year by an ophthalmologist. You’ll likely need prescription lenses to help with visions problems. Although surgery is rarely part of treatment for eye problems related to albinism, your ophthalmologist may recommend surgery on eye muscles to reduce nystagmus. Surgery to correct strabismus may make the condition less noticeable.

• #11 Albinism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17325

  Management of Eye Abnormalities […] Nystagmus naturally decreases over time. Additionally, individuals enact learn to adjust head posture to time the gaze position the yields the lowest nystagmic amplitude. This position is called the nystagmus null point. Eye muscle surgery can improve ocular alignment, improve head posture, and improve vision only in severe cases, but surgery may need to be repeated several times. Unless strabismus is severe, it is usually not necessary unless it is pursued for cosmetic reasons. Ophthalmic evaluation for optical correction 2 to 4 times per year (age 1 and 2), 1 to 3 times per year (age 3 to 6), annually (age 5 to 18), then every 2 to 3 years (adults). Refractive errors require treatment with corrective lenses, preferably by 4 to 6 months of age with frequent changes in prescriptions in the first years of life. Even with refractive correction, vision may never fully normalize because of irreversible foveal hypoplasia. Lenses that darken in sunlight help with photophobia but decrease vision. Lenses should have UV protection. Bifocals and low-vision aids may also be considered in older children and adults. Teaching aids and special classroom considerations (high contrast reading material, large print texts and worksheets, close-to-board seating, magnification settings on computers, among others) can help overcome the educational delays associated with visual deficits.

• #12 Albinism: What You Can do for Your Patients

  https://www.reviewofophthalmology.com/article/albinism-what-you-can-do-for-your-patients

  Young patients with oculocutaneous albinism can benefit from traditional ophthalmological care and new low-vision devices. […] There is currently no cure for oculocutaneous albinism, but there are a number of measures that can be taken to improve your patients visual function and to educate him on the importance of protection from sun damage. […] First and foremost, clinicians must aim to maximize correction of any refractive error. […] Using tinted lenses to alleviate photophobia is helpful in some patients. […] Monitoring for strabismus and anomalous head positioning is important. […] The Kestenbaum-Anderson procedure can be utilized if a significant head-turn exists. […] Richard W. Hertle, MD, and colleagues found horizontal muscle tenotomy to be effective in dampening nystagmus and improving visual acuity.

• #13 Albinism: What You Can do for Your Patients

  https://www.reviewofophthalmology.com/article/albinism-what-you-can-do-for-your-patients

  Young patients with oculocutaneous albinism can benefit from traditional ophthalmological care and new low-vision devices. […] There is currently no cure for oculocutaneous albinism, but there are a number of measures that can be taken to improve your patients visual function and to educate him on the importance of protection from sun damage. […] First and foremost, clinicians must aim to maximize correction of any refractive error. […] Using tinted lenses to alleviate photophobia is helpful in some patients. […] Monitoring for strabismus and anomalous head positioning is important. […] The Kestenbaum-Anderson procedure can be utilized if a significant head-turn exists. […] Richard W. Hertle, MD, and colleagues found horizontal muscle tenotomy to be effective in dampening nystagmus and improving visual acuity.

• #14 Albinism: for patients – Gene Vision

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

  There is currently no treatment available for the underlying genetic changes causing albinism. Patients are usually managed supportively by a team consisting of different specialists, focusing on alleviating the associated symptoms and optimising quality of life. […] In general, children affected by albinism may have the following treatments to optimise their vision: Glasses/ contact lenses to help sharpen the vision, Tinted glasses to help reduce light sensitivity, Eye drops to help reduce the eye movement due to nystagmus, Occlusion therapy for amblyopia the stronger eye is usually patched for several hours every day so that the weaker eye can be stimulated. […] 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.

• #15 Albinism | Doctor

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

  Ophthalmologists prefer to start treatment when patients are about 6 months of age, before the function of their eyes has developed fully. […] They may recommend a patch over one eye to promote the use of the non-preferred eye. In other cases, the alignment of the eyes improves with the wearing of glasses. […] Improving the alignment of the eyes enhances psychosocial development and interpersonal interactions but also cannot correct the improper routing of the neural pathways. […] People with albinism are very susceptible to burning and subsequent skin malignancies. High-factor sun protection cream and avoidance of sunlight are essential.

• #16 Albinism | Doctor

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

  Ophthalmologists prefer to start treatment when patients are about 6 months of age, before the function of their eyes has developed fully. […] They may recommend a patch over one eye to promote the use of the non-preferred eye. In other cases, the alignment of the eyes improves with the wearing of glasses. […] Improving the alignment of the eyes enhances psychosocial development and interpersonal interactions but also cannot correct the improper routing of the neural pathways. […] People with albinism are very susceptible to burning and subsequent skin malignancies. High-factor sun protection cream and avoidance of sunlight are essential.

• #17 Albinism: for patients – Gene Vision

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

  There is currently no treatment available for the underlying genetic changes causing albinism. Patients are usually managed supportively by a team consisting of different specialists, focusing on alleviating the associated symptoms and optimising quality of life. […] In general, children affected by albinism may have the following treatments to optimise their vision: Glasses/ contact lenses to help sharpen the vision, Tinted glasses to help reduce light sensitivity, Eye drops to help reduce the eye movement due to nystagmus, Occlusion therapy for amblyopia the stronger eye is usually patched for several hours every day so that the weaker eye can be stimulated. […] 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.

• #18 Albinism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17325

  Management of Eye Abnormalities […] Nystagmus naturally decreases over time. Additionally, individuals enact learn to adjust head posture to time the gaze position the yields the lowest nystagmic amplitude. This position is called the nystagmus null point. Eye muscle surgery can improve ocular alignment, improve head posture, and improve vision only in severe cases, but surgery may need to be repeated several times. Unless strabismus is severe, it is usually not necessary unless it is pursued for cosmetic reasons. Ophthalmic evaluation for optical correction 2 to 4 times per year (age 1 and 2), 1 to 3 times per year (age 3 to 6), annually (age 5 to 18), then every 2 to 3 years (adults). Refractive errors require treatment with corrective lenses, preferably by 4 to 6 months of age with frequent changes in prescriptions in the first years of life. Even with refractive correction, vision may never fully normalize because of irreversible foveal hypoplasia. Lenses that darken in sunlight help with photophobia but decrease vision. Lenses should have UV protection. Bifocals and low-vision aids may also be considered in older children and adults. Teaching aids and special classroom considerations (high contrast reading material, large print texts and worksheets, close-to-board seating, magnification settings on computers, among others) can help overcome the educational delays associated with visual deficits.

• #19 Albinism

  https://www.nhs.uk/conditions/albinism/

  Sunglasses, tinted glasses and wearing a wide-brimmed hat outside can help with sensitivity to light. […] There’s currently no cure for nystagmus (where the eyes move from side to side involuntarily). However, it is not painful and does not get worse. […] Surgery, involving dividing and then reattaching some of the eye muscles, may sometimes be an option. […] The main treatments for squints are glasses, eye exercises, surgery and injections into the eye muscles. […] If your child has developed a lazy eye, they may benefit from wearing a patch over their „good” eye to encourage their other eye to work harder.

• #20 Albinism Treatment & Management: Medical Care, Surgical Care, Consultations

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

  it is rare for individuals with strabismus to achieve binocularity and depth perception after undergoing strabismus surgery, and this may be explained by an absence of the required neuronal connections. […] Patients with albinism tend to do poorly after retinal detachment repair because of nystagmus and inherently weak retinal pigment epithelium retinal adhesions.

• #21

  https://www.aao.org/eye-health/diseases/what-is-albinism

  Albinism treatment has no treatment. But some conditions that people with albinism have are treatable. Other conditions related to albinism are manageable. […] For example, strabismus can be treated with glasses or surgery. Glasses can also help improve vision and reduce light sensitivity. For children with low vision, low vision aids such as hand-held magnifiers can help. Glasses with small telescopes attached are helpful for older children and adults. These lenses can help with both close and distant vision. […] Parents and teachers can work together to help a child with albinism. It’s important to consider seating, lighting and optical aids in the classroom. These can make learning easier for a child with albinism. Some students with albinism may benefit from having a teacher for the visually impaired (or TVI). […] Peer support groups can help children and adults with albinism. These groups can help the individual to feel less isolated, learn positive attitudes and coping skills from others with low vision, and gather valuable resource information.

• #22 Albinism Treatment & Management: Medical Care, Surgical Care, Consultations

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

  No potential effective treatment or cure exists for albinism, but the following may be helpful to improve quality of life in patients with albinism: […] Optimize visual acuity: it is essential to correct refractive error with spectacle correction or contact lenses and initiate patching/penalization for amblyopia as soon as possible. […] Low-vision aids: No one device can serve the needs of all patients in all situations. Young children may simply need glasses, whereas older children may require bifocals. Occasionally, telescopic lenses mounted on glasses (bioptics) are prescribed for close-up work and distance vision. […] Tinted glasses may be used to reduce photophobia. Some patients do not like tinted lenses; they may benefit from wearing a cap or visor when outdoors. […] Eye muscle surgery may be performed to correct strabismus not improved by glasses, and may also be indicated to reduce amplitude of nystagmus, and correct anomalies head position.

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

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

  Albinism Treatment […] Albinism isn’t curable. The focus of treatment is to manage your symptoms or related conditions. […] Surgery or glasses. They may correct strabismus, or crossed eyes, that often comes with albinism. This is when your eyes aren’t lined up or point in different directions. […] Low-vision aids. Small telescopes that attach to glasses can help you see faraway objects better. Microscopes or magnifiers do the same with things that are closer up. Tinted glasses or contact lenses may ease your sensitivity to light. […] School aids. Books with bigger print, closed-circuit televisions, and video presentations can help with classwork, as can working with a teacher of visually impaired — an educator who specializes in teaching students who have vision issues. […] Medication. Researchers have tested drugs on people with albinism to help boost pigments in hair and skin and to improve vision. A small pilot study showed that the drugs l-dihydroxyphenylalanine and nitisinone may help raise the level of melanin to slightly darken hair and skin. But it found no effect on vision.

• #24 Albinism | Doctor

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

  Management is symptomatic, as the failed visual neural development cannot be corrected. Management aims at maximising useful vision through optometry. […] Astigmatism is the most common eye problem across all the subtypes, whilst there is a high frequency of hypermetropia in OCA1A patients. […] Corrected visual acuity ranges from 6/6 to 6/120, legally severely sight impaired. Near-normal vision is unusual even with glasses. […] Young children may simply need glasses and older children can sometimes benefit from bifocal glasses. […] Low vision clinics may prescribe telescopic lenses mounted on glasses, sometimes called bioptics, for close-up work as well as for distant vision. […] For nystagmus, eye muscle surgery can reduce the movement of the eyes. However, vision may not improve.

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

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

  Albinism Treatment […] Albinism isn’t curable. The focus of treatment is to manage your symptoms or related conditions. […] Surgery or glasses. They may correct strabismus, or crossed eyes, that often comes with albinism. This is when your eyes aren’t lined up or point in different directions. […] Low-vision aids. Small telescopes that attach to glasses can help you see faraway objects better. Microscopes or magnifiers do the same with things that are closer up. Tinted glasses or contact lenses may ease your sensitivity to light. […] School aids. Books with bigger print, closed-circuit televisions, and video presentations can help with classwork, as can working with a teacher of visually impaired — an educator who specializes in teaching students who have vision issues. […] Medication. Researchers have tested drugs on people with albinism to help boost pigments in hair and skin and to improve vision. A small pilot study showed that the drugs l-dihydroxyphenylalanine and nitisinone may help raise the level of melanin to slightly darken hair and skin. But it found no effect on vision.

• #26 Albinism

  https://www.nhs.uk/conditions/albinism/

  Although there’s no cure for the eye problems caused by albinism, there are a number of treatments, such as glasses and contact lenses, that can improve vision. […] A child with albinism may also need extra help and support at school. […] As a child with albinism gets older, they’ll need regular eye tests, and it’s likely they’ll need to wear glasses or contact lenses to correct vision problems. […] Vision aids include: large-print or high-contrast books and printed materials, magnifying lenses, a small telescope or telescopic lenses that attach to glasses to read writing in the distance, such as on a school whiteboard, large computer screens, software that can turn speech into typing or vice versa, tablets and phones that allow you to magnify the display to make writing and images easier to see.

• #27 Albinism: Types, Symptoms, and Causes

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

  Some people with albinism use glasses which have small telescopes mounted on, in or behind their regular lenses (bioptics). This enables them to look through either the regular lens or the telescope. Some patients wear contact lenses with a special iris tint. […] Various classroom aids help children with albinism. High-contrast written material with large text can help children to read: black on white high-contrast material is the easiest to read. Because children with albinism often have difficulty keeping track of their place on the page if copying text, it may help to allow them to write in the textbook. Audio tapes may be helpful. Computers with large text display will make reading easier. […] Giving the child copies of the teacher’s notes may be useful; sometimes magnifying devices can also be helpful.

• #28 Albinism

  https://www.nhs.uk/conditions/albinism/

  Although there’s no cure for the eye problems caused by albinism, there are a number of treatments, such as glasses and contact lenses, that can improve vision. […] A child with albinism may also need extra help and support at school. […] As a child with albinism gets older, they’ll need regular eye tests, and it’s likely they’ll need to wear glasses or contact lenses to correct vision problems. […] Vision aids include: large-print or high-contrast books and printed materials, magnifying lenses, a small telescope or telescopic lenses that attach to glasses to read writing in the distance, such as on a school whiteboard, large computer screens, software that can turn speech into typing or vice versa, tablets and phones that allow you to magnify the display to make writing and images easier to see.

• #29 Albinism

  https://www.nhs.uk/conditions/albinism/

  Although there’s no cure for the eye problems caused by albinism, there are a number of treatments, such as glasses and contact lenses, that can improve vision. […] A child with albinism may also need extra help and support at school. […] As a child with albinism gets older, they’ll need regular eye tests, and it’s likely they’ll need to wear glasses or contact lenses to correct vision problems. […] Vision aids include: large-print or high-contrast books and printed materials, magnifying lenses, a small telescope or telescopic lenses that attach to glasses to read writing in the distance, such as on a school whiteboard, large computer screens, software that can turn speech into typing or vice versa, tablets and phones that allow you to magnify the display to make writing and images easier to see.

• #30 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. […] 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. […] Other low vision aids include handheld magnifiers and glasses with small telescopes, which may improve the ability to see. […] Absorptive sunglasses or contact lenses with color may help reduce light sensitivity that occurs with ocular albinism.

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

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

  Albinism Treatment […] Albinism isn’t curable. The focus of treatment is to manage your symptoms or related conditions. […] Surgery or glasses. They may correct strabismus, or crossed eyes, that often comes with albinism. This is when your eyes aren’t lined up or point in different directions. […] Low-vision aids. Small telescopes that attach to glasses can help you see faraway objects better. Microscopes or magnifiers do the same with things that are closer up. Tinted glasses or contact lenses may ease your sensitivity to light. […] School aids. Books with bigger print, closed-circuit televisions, and video presentations can help with classwork, as can working with a teacher of visually impaired — an educator who specializes in teaching students who have vision issues. […] Medication. Researchers have tested drugs on people with albinism to help boost pigments in hair and skin and to improve vision. A small pilot study showed that the drugs l-dihydroxyphenylalanine and nitisinone may help raise the level of melanin to slightly darken hair and skin. But it found no effect on vision.

• #32 Albinism and Low Vision – ConnectCenter

  https://aphconnectcenter.org/visionaware/eye-conditions/eye-conditions-associated-with-blindness-a-b/albinism-6165/

  There is no cure for albinism, but a variety of measures can be taken to address some effects of the disease: […] Refractive errors should be diagnosed and treated promptly to maximize visual acuity and minimize amblyopia. […] Absorptive sunlenses/sunglasses can reduce light sensitivity/photosensitivity. […] Contact lenses with a colored component overlying the part of the contact lens that sits over the iris can help block light entry into the eye and reduce light sensitivity. These contact lenses also address the refractive error. […] Glasses with prisms can decrease nystagmus and treat strabismus (ocular misalignment); i.e., help both eyes point or look in the same direction. Prisms are special glasses that bend light and can help redirect the direction of light entering a misaligned eye.

• #33 Albinism Treatment & Management: Medical Care, Surgical Care, Consultations

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

  No potential effective treatment or cure exists for albinism, but the following may be helpful to improve quality of life in patients with albinism: […] Optimize visual acuity: it is essential to correct refractive error with spectacle correction or contact lenses and initiate patching/penalization for amblyopia as soon as possible. […] Low-vision aids: No one device can serve the needs of all patients in all situations. Young children may simply need glasses, whereas older children may require bifocals. Occasionally, telescopic lenses mounted on glasses (bioptics) are prescribed for close-up work and distance vision. […] Tinted glasses may be used to reduce photophobia. Some patients do not like tinted lenses; they may benefit from wearing a cap or visor when outdoors. […] Eye muscle surgery may be performed to correct strabismus not improved by glasses, and may also be indicated to reduce amplitude of nystagmus, and correct anomalies head position.

• #34 Albinism: Types, Symptoms, and Causes

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

  Treatments for albinism […] Treatment of albinism is mainly with support and help with vision: […] Surgery can be used to correct squint, which may improve the appearance of the eyes. However, surgery cannot improve eyesight or depth (binocular) vision. Eye specialists usually start to treat squint in infants of about 6 months of age. They may recommend a patch over one eye, or the wearing of glasses. […] Surgery can also help reduce nystagmus, if severe. Nystagmus may reduce over time. People with albinism may find ways of reducing nystagmus while reading, such as placing a finger by the eye, or tilting the head at an angle where nystagmus is reduced. […] Sunglasses or tinted contact lenses may help with light sensitivity. Indoors, it is important to place lights for close work over a shoulder rather than in front.

• #35 Albinism – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/albinism/diagnosis-treatment/drc-20369189

  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. […] People with Hermansky-Pudlak or Chediak-Higashi syndromes usually need regular specialized care for medical problems and to prevent complications.

• #36 Albinism – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/albinism/diagnosis-treatment/drc-20369189

  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. […] People with Hermansky-Pudlak or Chediak-Higashi syndromes usually need regular specialized care for medical problems and to prevent complications.

• #37 Albinism – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/albinism/diagnosis-treatment/drc-20369189

  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. […] People with Hermansky-Pudlak or Chediak-Higashi syndromes usually need regular specialized care for medical problems and to prevent complications.

• #38 Albinism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17325

  Management of Dermal Manifestations […] 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. Any outdoor activities, no matter how brief, should be preceded by the application of sunscreen (SPF 30+) with liberal and frequent reapplication (every 2 hours) when in the sun. No good studies support the use of high SPF, but some resources recommend SPF 50 or higher. Additional protection can be enlisted with the use of protective clothing and eyewear (hats, UPF-labeled clothing, long-sleeves, long pants, collared shirts, socks, UV protective sunglasses). Photophobia can be managed with dark lensed glasses, but because of the resultant vision reduction, some patients opt for brimmed hats. Self-examination and self-education on melanoma ABCDE criteria, prompt referral to dermatology for any suspicious or changing lesions, such as (1) new lesions in sun-exposed areas, (2) painful, itching, bleeding, nonhealing, changing lesions, or (3) asymmetrical, irregularly bordered, variably colored, diameter greater than 6 mm, evolving lesions. Lifelong, periodic skin examinations (once to twice per year) with dermatology for early detection and treatment of skin cancers. Referrals to pediatric dermatology should be early to illuminate the benefit and decode the terminology of sun-protective options. Surveillance should start at adolescence, as skin cancer may appear as early as the teenage years. Special attention from providers to changes in pink and red lesion, since most melanoma in OCA is amelanotic melanoma.

• #39 Albinism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17325

  Management of Dermal Manifestations […] 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. Any outdoor activities, no matter how brief, should be preceded by the application of sunscreen (SPF 30+) with liberal and frequent reapplication (every 2 hours) when in the sun. No good studies support the use of high SPF, but some resources recommend SPF 50 or higher. Additional protection can be enlisted with the use of protective clothing and eyewear (hats, UPF-labeled clothing, long-sleeves, long pants, collared shirts, socks, UV protective sunglasses). Photophobia can be managed with dark lensed glasses, but because of the resultant vision reduction, some patients opt for brimmed hats. Self-examination and self-education on melanoma ABCDE criteria, prompt referral to dermatology for any suspicious or changing lesions, such as (1) new lesions in sun-exposed areas, (2) painful, itching, bleeding, nonhealing, changing lesions, or (3) asymmetrical, irregularly bordered, variably colored, diameter greater than 6 mm, evolving lesions. Lifelong, periodic skin examinations (once to twice per year) with dermatology for early detection and treatment of skin cancers. Referrals to pediatric dermatology should be early to illuminate the benefit and decode the terminology of sun-protective options. Surveillance should start at adolescence, as skin cancer may appear as early as the teenage years. Special attention from providers to changes in pink and red lesion, since most melanoma in OCA is amelanotic melanoma.

• #40 Albinism (for Parents) | Nemours KidsHealth

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

  Most people with albinism are otherwise healthy. Treatments mainly include taking care of the eyes and skin. […] To care for the eyes, kids with albinism: need to see the ophthalmologist (eye doctor) often in the first 2 years of life and have regular follow-up care after that. […] People with albinism have an increased risk of developing skin cancer. To protect the skin, they can: Wear broad-spectrum sunscreen with at least SPF 30 when going outside and reapply every 2 hours. […] See their dermatologist (skin doctor) every 612 months for a skin check.

• #41 Albinism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17325

  Management of Dermal Manifestations […] 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. Any outdoor activities, no matter how brief, should be preceded by the application of sunscreen (SPF 30+) with liberal and frequent reapplication (every 2 hours) when in the sun. No good studies support the use of high SPF, but some resources recommend SPF 50 or higher. Additional protection can be enlisted with the use of protective clothing and eyewear (hats, UPF-labeled clothing, long-sleeves, long pants, collared shirts, socks, UV protective sunglasses). Photophobia can be managed with dark lensed glasses, but because of the resultant vision reduction, some patients opt for brimmed hats. Self-examination and self-education on melanoma ABCDE criteria, prompt referral to dermatology for any suspicious or changing lesions, such as (1) new lesions in sun-exposed areas, (2) painful, itching, bleeding, nonhealing, changing lesions, or (3) asymmetrical, irregularly bordered, variably colored, diameter greater than 6 mm, evolving lesions. Lifelong, periodic skin examinations (once to twice per year) with dermatology for early detection and treatment of skin cancers. Referrals to pediatric dermatology should be early to illuminate the benefit and decode the terminology of sun-protective options. Surveillance should start at adolescence, as skin cancer may appear as early as the teenage years. Special attention from providers to changes in pink and red lesion, since most melanoma in OCA is amelanotic melanoma.

• #42 Albinism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17325

  Management of Dermal Manifestations […] 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. Any outdoor activities, no matter how brief, should be preceded by the application of sunscreen (SPF 30+) with liberal and frequent reapplication (every 2 hours) when in the sun. No good studies support the use of high SPF, but some resources recommend SPF 50 or higher. Additional protection can be enlisted with the use of protective clothing and eyewear (hats, UPF-labeled clothing, long-sleeves, long pants, collared shirts, socks, UV protective sunglasses). Photophobia can be managed with dark lensed glasses, but because of the resultant vision reduction, some patients opt for brimmed hats. Self-examination and self-education on melanoma ABCDE criteria, prompt referral to dermatology for any suspicious or changing lesions, such as (1) new lesions in sun-exposed areas, (2) painful, itching, bleeding, nonhealing, changing lesions, or (3) asymmetrical, irregularly bordered, variably colored, diameter greater than 6 mm, evolving lesions. Lifelong, periodic skin examinations (once to twice per year) with dermatology for early detection and treatment of skin cancers. Referrals to pediatric dermatology should be early to illuminate the benefit and decode the terminology of sun-protective options. Surveillance should start at adolescence, as skin cancer may appear as early as the teenage years. Special attention from providers to changes in pink and red lesion, since most melanoma in OCA is amelanotic melanoma.

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

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

  Taking extra precautions to protect your skin from the sun is essential because low or no melanin can make you more vulnerable to the sun’s UV rays and increase your risk of sunburn. […] Skin protection measures for albinism include: Putting on sunscreen with a sun protection factor (SPF) of 30 or higher and reapplying it every two hours, Wearing protective clothing, including hats, long sleeves, sun shirts, and pants, Avoiding sun exposure at the peak hours of ultraviolet rays, which is between 10 am to 2 pm standard time or 11 am to 3 pm during daylight savings.

• #44 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. […] To care for the eyes, people with albinism: need to see an ophthalmologist (eye doctor) regularly, can wear special glasses or contact lenses to protect their eyes from the sun, can get treatment for nystagmus and other eye problems. […] 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.

• #45 Albinism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17325

  Management of Dermal Manifestations […] 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. Any outdoor activities, no matter how brief, should be preceded by the application of sunscreen (SPF 30+) with liberal and frequent reapplication (every 2 hours) when in the sun. No good studies support the use of high SPF, but some resources recommend SPF 50 or higher. Additional protection can be enlisted with the use of protective clothing and eyewear (hats, UPF-labeled clothing, long-sleeves, long pants, collared shirts, socks, UV protective sunglasses). Photophobia can be managed with dark lensed glasses, but because of the resultant vision reduction, some patients opt for brimmed hats. Self-examination and self-education on melanoma ABCDE criteria, prompt referral to dermatology for any suspicious or changing lesions, such as (1) new lesions in sun-exposed areas, (2) painful, itching, bleeding, nonhealing, changing lesions, or (3) asymmetrical, irregularly bordered, variably colored, diameter greater than 6 mm, evolving lesions. Lifelong, periodic skin examinations (once to twice per year) with dermatology for early detection and treatment of skin cancers. Referrals to pediatric dermatology should be early to illuminate the benefit and decode the terminology of sun-protective options. Surveillance should start at adolescence, as skin cancer may appear as early as the teenage years. Special attention from providers to changes in pink and red lesion, since most melanoma in OCA is amelanotic melanoma.

• #46 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. 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.

• #47 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

  Treatment of Oculocutaneous/Ocular Albinism and for Increasing Pigmentation […] 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. […] 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. […] Nitisinone (NTBC) is an FDA-approved drug used in the treatment of tyrosinemia, type 1.

• #48 Treatment of Oculocutaneous/Ocular Albinism and Increasing Pigmentation in Skin, Hair and Eyes | National Eye Institute

  https://www.nei.nih.gov/grants-and-training/resources-researchers/technology-transfer-nei/treatment-oculocutaneousocular-albinism-and-increasing-pigmentation-skin-hair-and-eyes

  Albinism 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. […] NEI investigators have identified that administration of Nitisinone 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. […] Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.

• #49 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

  Treatment of Oculocutaneous/Ocular Albinism and for Increasing Pigmentation […] 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. […] 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. […] Nitisinone (NTBC) is an FDA-approved drug used in the treatment of tyrosinemia, type 1.

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

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

  Albinism Treatment […] Albinism isn’t curable. The focus of treatment is to manage your symptoms or related conditions. […] Surgery or glasses. They may correct strabismus, or crossed eyes, that often comes with albinism. This is when your eyes aren’t lined up or point in different directions. […] Low-vision aids. Small telescopes that attach to glasses can help you see faraway objects better. Microscopes or magnifiers do the same with things that are closer up. Tinted glasses or contact lenses may ease your sensitivity to light. […] School aids. Books with bigger print, closed-circuit televisions, and video presentations can help with classwork, as can working with a teacher of visually impaired — an educator who specializes in teaching students who have vision issues. […] Medication. Researchers have tested drugs on people with albinism to help boost pigments in hair and skin and to improve vision. A small pilot study showed that the drugs l-dihydroxyphenylalanine and nitisinone may help raise the level of melanin to slightly darken hair and skin. But it found no effect on vision.

• #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. […] Results from a small clinical trial (5 people) suggest that the drug nitisinone can help increase melanin in the skin and hair of people with OCA1b. More research is needed.

• #52 Research for New Potential Albinism Treatment Moving Forward – Patient Worthy

  https://patientworthy.com/2019/02/26/research-new-potential-albinism-oca-treatment-moving-forward/

  There are many different forms of oculocutaneous albinism (OCA), all caused by different genetic mutations to the genes responsible for producing melanin. […] A recent study conducted by researchers at the National Eye Institute (NEI) worked to investigate a new drug which could increase the production of melanin for those with OCA-1B. […] NEI’s goal was to investigate the safety and efficacy of the drug nitisinone in individuals with OCA-1B. They believe it could stabilize tyrosinase in the body. […] Currently, nitisinone holds FDA approval for the treatment of tyrosinemia. […] The results from this study were positive but not overwhelming. Most of the participants had a slight darkening in their hair and their skin, with one patient’s skin darkening after exposure to the sun. […] As the ultimate hope is that this treatment could help vision develop normally in albinism patients and protect them from the sun’s rays which are normally so detrimental, these results are slightly disheartening. […] However, their next step is to begin a larger trial of this therapy for teenagers diagnosed with OCA-1B. If results from this trial are positive, they will move to investigations with an even younger group of patients.

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

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

  There is no cure for albinism. Treatment focuses on managing symptoms and reducing risks of complications. […] Prescription glasses can help correct refractive errors, improve visual acuity, and reduce light sensitivity to some degree (though even with corrective lenses, vision may never fully normalize). […] Nystagmus may naturally decrease over time. Its possible to adjust your head posture to reach the nystagmus null point, the position at which the abnormal eye movement is at a lower intensity than in other directions of gaze. In severe cases, some people benefit from eye muscle surgery to shift the null point to a more natural position. Surgery can also help correct strabismus. […] There are no approved medications for treating albinism, but researchers are investigating a few options. […] A small pilot study suggested that the drug nitisinone (Nityr, Orfadin) can increase melatonin production in people with OCA1-B. […] And a study in mice found that the amino acid L-DOPA (levodopa) can help support retinal development in newborns with albinism when given within 15 days of birth.

• #54 Albinism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17325

  Direct Therapeutic Modalities […] Nitisinone triggers tyrosine accumulation in blood and mouse models have suggested that it could improve pigmentation in OCA1B subjects, but a clinical trial is currently underway. Aminoglycosides are a potential and unconfirmed therapy. Despite anecdotal reports, L-DOPA did not result in any improvement in visual acuity in a study of 45 patients. Adeno-associated viruses (AAV) vectors is a potential gene therapy introducing a functional copy of the tyrosinase gene in OCA1 and OA1 patients.

• #55 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. 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.

• #56 Albinism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17325

  Direct Therapeutic Modalities […] Nitisinone triggers tyrosine accumulation in blood and mouse models have suggested that it could improve pigmentation in OCA1B subjects, but a clinical trial is currently underway. Aminoglycosides are a potential and unconfirmed therapy. Despite anecdotal reports, L-DOPA did not result in any improvement in visual acuity in a study of 45 patients. Adeno-associated viruses (AAV) vectors is a potential gene therapy introducing a functional copy of the tyrosinase gene in OCA1 and OA1 patients.

• #57 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

  TYROSINASE Gene Therapy for Oculocutaneous Albinism type 1A […] 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. […] Introducing the AAV-Tyr construct in OCA1A patient derived RPE also showed increased pigment density, demonstrating the construct’s therapeutic potential to increase melanin production in vivo and in affected patient cells. […] Researchers at the NEI seek licensing and/or co-development research collaborations for an adeno-associated viral gene therapy for Oculocutaneous Albinism type 1A.

• #58 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

  TYROSINASE Gene Therapy for Oculocutaneous Albinism type 1A […] 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. […] Introducing the AAV-Tyr construct in OCA1A patient derived RPE also showed increased pigment density, demonstrating the construct’s therapeutic potential to increase melanin production in vivo and in affected patient cells. […] Researchers at the NEI seek licensing and/or co-development research collaborations for an adeno-associated viral gene therapy for Oculocutaneous Albinism type 1A.

• #59 Albinism and Low Vision – ConnectCenter

  https://aphconnectcenter.org/visionaware/eye-conditions/eye-conditions-associated-with-blindness-a-b/albinism-6165/

  Surgery may also be considered to reduce nystagmus or to align the eyes (i.e. treat strabismus), especially if either is causing a significant abnormality in head position. These surgeries involve adjusting the length or position of the muscles on the outside of the eye to maintain eye position and move the eye in various directions. […] A comprehensive low vision examination, with optical and non-optical low vision devices, electronic magnifiers, and vision rehabilitation services and training can be helpful for some individuals with albinism. […] Genetic counseling can help parents and adult patients with albinism understand the cause and the risks of the condition for future children. […] Emerging therapies: Studies in animal models of the condition have shown promise for gene therapy, in which the abnormal gene is replaced with a normal copy of the gene and results in the reversal of some of the retinal abnormalities. Although this has not yet been well evaluated in humans, these animal studies suggest future potential for gene therapy for albinism.

• #60 Albinism and Low Vision – ConnectCenter

  https://aphconnectcenter.org/visionaware/eye-conditions/eye-conditions-associated-with-blindness-a-b/albinism-6165/

  Surgery may also be considered to reduce nystagmus or to align the eyes (i.e. treat strabismus), especially if either is causing a significant abnormality in head position. These surgeries involve adjusting the length or position of the muscles on the outside of the eye to maintain eye position and move the eye in various directions. […] A comprehensive low vision examination, with optical and non-optical low vision devices, electronic magnifiers, and vision rehabilitation services and training can be helpful for some individuals with albinism. […] Genetic counseling can help parents and adult patients with albinism understand the cause and the risks of the condition for future children. […] Emerging therapies: Studies in animal models of the condition have shown promise for gene therapy, in which the abnormal gene is replaced with a normal copy of the gene and results in the reversal of some of the retinal abnormalities. Although this has not yet been well evaluated in humans, these animal studies suggest future potential for gene therapy for albinism.

• #61 Albinism – Symptoms and causes – Mayo Clinic

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

  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. […] Albinism can include skin and eye complications. It also can include social and emotional challenges. […] 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.

• #62 Albinism

  https://www.nhs.uk/conditions/albinism/

  Although there’s no cure for the eye problems caused by albinism, there are a number of treatments, such as glasses and contact lenses, that can improve vision. […] A child with albinism may also need extra help and support at school. […] As a child with albinism gets older, they’ll need regular eye tests, and it’s likely they’ll need to wear glasses or contact lenses to correct vision problems. […] Vision aids include: large-print or high-contrast books and printed materials, magnifying lenses, a small telescope or telescopic lenses that attach to glasses to read writing in the distance, such as on a school whiteboard, large computer screens, software that can turn speech into typing or vice versa, tablets and phones that allow you to magnify the display to make writing and images easier to see.

• #63

  https://www.aao.org/eye-health/diseases/what-is-albinism

  Albinism treatment has no treatment. But some conditions that people with albinism have are treatable. Other conditions related to albinism are manageable. […] For example, strabismus can be treated with glasses or surgery. Glasses can also help improve vision and reduce light sensitivity. For children with low vision, low vision aids such as hand-held magnifiers can help. Glasses with small telescopes attached are helpful for older children and adults. These lenses can help with both close and distant vision. […] Parents and teachers can work together to help a child with albinism. It’s important to consider seating, lighting and optical aids in the classroom. These can make learning easier for a child with albinism. Some students with albinism may benefit from having a teacher for the visually impaired (or TVI). […] Peer support groups can help children and adults with albinism. These groups can help the individual to feel less isolated, learn positive attitudes and coping skills from others with low vision, and gather valuable resource information.

• #64 Albinism: Types, Symptoms, and Causes

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

  Some people with albinism use glasses which have small telescopes mounted on, in or behind their regular lenses (bioptics). This enables them to look through either the regular lens or the telescope. Some patients wear contact lenses with a special iris tint. […] Various classroom aids help children with albinism. High-contrast written material with large text can help children to read: black on white high-contrast material is the easiest to read. Because children with albinism often have difficulty keeping track of their place on the page if copying text, it may help to allow them to write in the textbook. Audio tapes may be helpful. Computers with large text display will make reading easier. […] Giving the child copies of the teacher’s notes may be useful; sometimes magnifying devices can also be helpful.

• #65 Albinism: Types, Symptoms, and Causes

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

  Some people with albinism use glasses which have small telescopes mounted on, in or behind their regular lenses (bioptics). This enables them to look through either the regular lens or the telescope. Some patients wear contact lenses with a special iris tint. […] Various classroom aids help children with albinism. High-contrast written material with large text can help children to read: black on white high-contrast material is the easiest to read. Because children with albinism often have difficulty keeping track of their place on the page if copying text, it may help to allow them to write in the textbook. Audio tapes may be helpful. Computers with large text display will make reading easier. […] Giving the child copies of the teacher’s notes may be useful; sometimes magnifying devices can also be helpful.

• #66 Albinism: Types, Symptoms, and Causes

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

  Some people with albinism use glasses which have small telescopes mounted on, in or behind their regular lenses (bioptics). This enables them to look through either the regular lens or the telescope. Some patients wear contact lenses with a special iris tint. […] Various classroom aids help children with albinism. High-contrast written material with large text can help children to read: black on white high-contrast material is the easiest to read. Because children with albinism often have difficulty keeping track of their place on the page if copying text, it may help to allow them to write in the textbook. Audio tapes may be helpful. Computers with large text display will make reading easier. […] Giving the child copies of the teacher’s notes may be useful; sometimes magnifying devices can also be helpful.

• #67 Albinism: Types, Symptoms, and Causes

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

  Some people with albinism use glasses which have small telescopes mounted on, in or behind their regular lenses (bioptics). This enables them to look through either the regular lens or the telescope. Some patients wear contact lenses with a special iris tint. […] Various classroom aids help children with albinism. High-contrast written material with large text can help children to read: black on white high-contrast material is the easiest to read. Because children with albinism often have difficulty keeping track of their place on the page if copying text, it may help to allow them to write in the textbook. Audio tapes may be helpful. Computers with large text display will make reading easier. […] Giving the child copies of the teacher’s notes may be useful; sometimes magnifying devices can also be helpful.

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

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

  Albinism Treatment […] Albinism isn’t curable. The focus of treatment is to manage your symptoms or related conditions. […] Surgery or glasses. They may correct strabismus, or crossed eyes, that often comes with albinism. This is when your eyes aren’t lined up or point in different directions. […] Low-vision aids. Small telescopes that attach to glasses can help you see faraway objects better. Microscopes or magnifiers do the same with things that are closer up. Tinted glasses or contact lenses may ease your sensitivity to light. […] School aids. Books with bigger print, closed-circuit televisions, and video presentations can help with classwork, as can working with a teacher of visually impaired — an educator who specializes in teaching students who have vision issues. […] Medication. Researchers have tested drugs on people with albinism to help boost pigments in hair and skin and to improve vision. A small pilot study showed that the drugs l-dihydroxyphenylalanine and nitisinone may help raise the level of melanin to slightly darken hair and skin. But it found no effect on vision.

• #69

  https://www.aao.org/eye-health/diseases/what-is-albinism

  Albinism treatment has no treatment. But some conditions that people with albinism have are treatable. Other conditions related to albinism are manageable. […] For example, strabismus can be treated with glasses or surgery. Glasses can also help improve vision and reduce light sensitivity. For children with low vision, low vision aids such as hand-held magnifiers can help. Glasses with small telescopes attached are helpful for older children and adults. These lenses can help with both close and distant vision. […] Parents and teachers can work together to help a child with albinism. It’s important to consider seating, lighting and optical aids in the classroom. These can make learning easier for a child with albinism. Some students with albinism may benefit from having a teacher for the visually impaired (or TVI). […] Peer support groups can help children and adults with albinism. These groups can help the individual to feel less isolated, learn positive attitudes and coping skills from others with low vision, and gather valuable resource information.

• #70

  https://www.aao.org/eye-health/diseases/what-is-albinism

  Albinism treatment has no treatment. But some conditions that people with albinism have are treatable. Other conditions related to albinism are manageable. […] For example, strabismus can be treated with glasses or surgery. Glasses can also help improve vision and reduce light sensitivity. For children with low vision, low vision aids such as hand-held magnifiers can help. Glasses with small telescopes attached are helpful for older children and adults. These lenses can help with both close and distant vision. […] Parents and teachers can work together to help a child with albinism. It’s important to consider seating, lighting and optical aids in the classroom. These can make learning easier for a child with albinism. Some students with albinism may benefit from having a teacher for the visually impaired (or TVI). […] Peer support groups can help children and adults with albinism. These groups can help the individual to feel less isolated, learn positive attitudes and coping skills from others with low vision, and gather valuable resource information.

• #71

  https://www.aao.org/eye-health/diseases/what-is-albinism

  Albinism treatment has no treatment. But some conditions that people with albinism have are treatable. Other conditions related to albinism are manageable. […] For example, strabismus can be treated with glasses or surgery. Glasses can also help improve vision and reduce light sensitivity. For children with low vision, low vision aids such as hand-held magnifiers can help. Glasses with small telescopes attached are helpful for older children and adults. These lenses can help with both close and distant vision. […] Parents and teachers can work together to help a child with albinism. It’s important to consider seating, lighting and optical aids in the classroom. These can make learning easier for a child with albinism. Some students with albinism may benefit from having a teacher for the visually impaired (or TVI). […] Peer support groups can help children and adults with albinism. These groups can help the individual to feel less isolated, learn positive attitudes and coping skills from others with low vision, and gather valuable resource information.

• #72 Albinism – EyeWiki

  https://eyewiki.org/Albinism

  Albinism represents a set of inherited conditions characterized by absent or decreased tissue melanin in conjunction with characteristic ocular and visual pathway anomalies. […] Proper ophthalmic and dermatologic management may be crucial in maximizing visual potential and overall prognosis. Genetic counseling for the affected individuals and their families is recommended. […] Patients with strabismus or nystagmus may benefit from eye muscle surgery, so identification of such patients early may help optimize visual function. […] Nitisinone is an FDA-approved inhibitor of tyrosine degradation for hereditary tyrosinemia. […] A group by Martinez-Garcia et al attempted to supplement L-DOPA, an intermediate metabolite of melanin synthesis pathway in mouse models. […] A Japanese group suggested the use of aminoglycosides that can read through non-sense mutations for a potential treatment measure for common mutations found in albinism. […] With proper secondary prevention and supportive care for UV protection, the risk of skin cancer may be drastically reduced.

• #73 Albinism – Symptoms and causes – Mayo Clinic

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

  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. […] Albinism can include skin and eye complications. It also can include social and emotional challenges. […] 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.

• #74 Albinism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17325

  Management of the Inheritable Nature of the Condition […] Genetics consultation before childbearing years is beneficial to parents of albino children considering future offspring, the patient with albinism and their siblings. Albinism is an obligate homozygote condition with a 100% chance of passing on their defective gene. Coordinated genetic testing of the nonaffected partner is possible if the pathogenic variant is known. This will confirm the offspring have the potential to inherit the condition, if the partner is a carrier of the same pathogenic variant, or just be obligate carriers if the partner has only wild-type genes. A couple who has already had an albino child has a 25% chance of having another child with albinism, a 50% chance of producing carrier offspring, and 25% of producing non-carrier offspring. This is assuming that one of the parents is not albino, in which case the chance of producing a second albino offspring is 50% after a confirmed albino offspring. The fact than non-albino siblings have a 67% chance of being carriers is important to convey before they consider childbearing. Of note, if two parents carry genes for different types of albinism (for example, a patient with OCA2 and a carrier for OCA1), no children will be born with albinism, but the children are at risk for being heterozygous for both mutant alleles.

• #75 Albinism – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/albinism/diagnosis-treatment/drc-20369189

  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. […] People with Hermansky-Pudlak or Chediak-Higashi syndromes usually need regular specialized care for medical problems and to prevent complications.

• #76 Albinism: for patients – Gene Vision

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

  Not in many cases. Surgery is usually only undertaken if a child is adopting an extreme head posture to optimise vision as this can lead to severe discomfort in the neck, shoulder and upper back. […] Due to the increased risk of developing skin cancer, affected individuals should ensure the following: Wear adequate skin protection from sun exposure such as using sun block, long sleeved clothing and wearing caps or hats with a wide brim. […] 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.

• #77 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. 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.

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