Materiały źródłowe

• #1 Albinism – StatPearls – NCBI Bookshelf

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

  Occurrence is estimated at 1:17,000 to 1:20,000 overall. Approximately one in 70 individuals carry an OCA-mutated allele, with the OCA2 mutation being the most common worldwide. OCA2 is common in sub-Saharan Africa since cultural norms permit consanguineous marriages, allowing prevalence reach 1 in 1000 and a phenomenon called pseudo-dominance where the recessive allele burden is so high in a given family, that the recessive trait is disproportionately represented. The prevalence of individual forms of albinism are included below: […] OCA1: Prevalence is 1 in 40,000 worldwide but one of the most common forms in America and China (70% of cases) […] OCA2: The most common worldwide (1:39,000). Prevalence as follows: African Americans (1:10,000), overall Americans (1:36,000), Sub-Saharan Africa (1:3,900)

• #2 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. Eight types of OCA caused by variants in different genes have been recognized. All types share reduced to absent pigmentation of skin, hair, and eyes, but the clinical phenotypes vary along a broad spectrum of disease severity. […] The overall prevalence of albinism in the Western world is estimated to be 1 in 17,000 to 1 in 20,000, with ample variations across ethnic groups and geographic regions. One in 70 individuals is estimated to carry an OCA-mutated allele.

• #3 Oculocutaneous albinism | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-43

  Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. […] Albinism can affect people of all ethnic backgrounds and has been extensively studied. Approximately one in 17,000 people have one of the types of albinism. This suggests that about 1 in 70 people carry a gene for OCA. Prevalence of the different forms of albinism varies considerably worldwide, partly explained by the different founder mutations in different genes and the fact that it can be difficult clinically to distinguish between the different subtypes of albinism among the large normal spectrum of pigmentation. OCA2 is the most prevalent form worldwide.

• #4 Albinism: Background, Pathophysiology, Epidemiology

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

  The incidence of albinism is 1 in 20,000 persons worldwide, compared with a rate of 1 in 37,000 in the United States. OCA1 is the most commonly found subtype in Caucasians, and accounting for 50% of all cases worldwide. OCA2 is responsible for 30% of cases worldwide and is more common in Africa. OCA3 affects 3% and OCA4 affects 17% of all cases globally. OCA5-8 are rare forms. HPS is a common type of albinism in Puerto Rico, but the disorder is rare in other parts of the world. […] Albinism usually is not linked to mortality, and individuals with the disorder have a normal lifespan; the overall health of children and adults with albinism usually does not suffer from the decreased melanin in the hair, skin, and eyes, and this reduction causes no additional systemic effects. Normal growth and intellectual development should progress in a child with albinism, and they should accomplish developmental milestones on par with other children their age.

• #5 SciELO Brazil – Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors

  https://www.scielo.br/j/abd/a/RwGPXJzknk9FnxMkDBjRPyg/

  Albinism is a genetic disorder that affects individuals of all social classes and countries worldwide, albeit at different prevalence rates. The global incidence of albinism is 1:20,000 individuals, with a lower rate in the United States (1:37,000), while the highest rate reported in the literature to date is amongst the Cuna indigenous people (in Panama and Colombia), who have an estimated incidence of 6.3 per 1000 population. […] In sub-Saharan Africa, 1:5000 to 1:15,000 are affected by albinism. […] The prevalence of albinism in these studies ranged from 1:15,000 in the mid-eastern state of Nigeria to 1:1000 among the Tonga tribe of Zimbabwe, an isolated rural community. […] Albinism is considered a relatively common hereditary condition among populations of South Africa. […] The frequency of different types of OCA differs according to the population.

• #5 SciELO Brazil – Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors

  https://www.scielo.br/j/abd/a/RwGPXJzknk9FnxMkDBjRPyg/

  Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. […] In Brazil, as in other parts of the world, albinism remains a little known disorder, both in relation to epidemiological data and to phenotypic and genotypic variation. […] Consequently, actinic damage and skin cancer occur early and have a high incidence in this population, often leading to premature death. […] Skin monitoring of these patients and immediate therapeutic interventions have a positive impact in reducing the morbidity and mortality associated with this condition. […] The aim of this article is to present a review of the epidemiological, clinical, genetic, and psychosocial characteristics of albinism, with a focus in skin changes caused by this rare pigmentation disorder.

• #6 Albinism in humans – Wikipedia

  https://en.wikipedia.org/wiki/Albinism_in_humans

  Albinism affects people of all ethnic backgrounds; its frequency worldwide is estimated to be approximately one in 17,000. […] Prevalence of the different forms of albinism varies considerably by population and is highest overall in people of sub-Saharan African descent. […] Today, the prevalence of albinism in sub-Saharan Africa is around 1 in 5,000, while in Europe and the US it is around 1 in 20,000 of the European-derived population. […] Rates as high as 1 in 1,000 have been reported for some populations in Zimbabwe and other parts of Southern Africa. […] Certain ethnic groups and populations in isolated areas exhibit heightened susceptibility to albinism, presumably due to genetic factors. […] These include notably the Native American Guna, Zuni and Hopi nations (respectively of Panama, New Mexico and Arizona); Japan, in which one particular form of albinism is unusually common (OCA 4); and Ukerewe Island, the population of which shows a very high incidence of albinism.

• #7 Albinism | Doctor

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

  About 1 in 70 people carry a gene for OCA. Approximately 1 in 17,000 people in Europe and the USA have one of the types of albinism, although in some parts of the world it is more common than this. In Tanzania 1 in 1,500 live births are affected, mostly with OCA. […] Albinism can affect all races and it also affects other species, including mice.

• #8 Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues | Kromberg | African Journal of Disability

  https://ajod.org/index.php/ajod/article/view/877/1984

  Albinism is an inherited condition associated with significant depigmentation of the skin, hair and eyes. It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. In southern Africa albinism is common, about 1 in 4000 people are affected, but it remains a poorly understood condition surrounded by myths and superstition. […] The prevalence of OCA is higher in Africa than elsewhere, apart from rare, small and isolated populations found in Arizona (USA) and Panama (Witkop et al. 1972). […] At present, the condition is receiving attention in many health departments and disability services across Africa (Ero 2020). Therefore, the objective of this paper is to discuss oculocutaneous albinism in the black African population, with specific reference to published reports on the historical background, albinism as a disability, epidemiology, genetics and genetic counselling, health, psychosocial and cultural issues, and management of the condition.

• #9 Sociodemographic and visual characteristics of individuals with oculocutaneous albinism in Botswana | Panicker | African Vision and Eye Health

  https://avehjournal.org/index.php/aveh/article/view/967/2728

  Understanding the characteristics of oculocutaneous albinism (OCA) in African populations is crucial for developing appropriate support strategies. […] Varied prevalence of OCA has been reported across African countries, and different populations have been isolated. The mean prevalence reported was 1 in 4264 (1/1755 to 1/7900) African individuals. […] Although OCA affects people worldwide, there is limited information on the visual function of individuals with OCA in Africa. […] The findings highlight the critical need for targeted interventions to address the prevalent visual impairments among individuals with OCA in Botswana, aiming to enhance their quality of life and socio-economic integration. […] The study included a diverse participant pool, ensuring a broad representation of ethnic backgrounds.

• #10 Albinism – StatPearls – NCBI Bookshelf

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

  Occurrence is estimated at 1:17,000 to 1:20,000 overall. Approximately one in 70 individuals carry an OCA-mutated allele, with the OCA2 mutation being the most common worldwide. OCA2 is common in sub-Saharan Africa since cultural norms permit consanguineous marriages, allowing prevalence reach 1 in 1000 and a phenomenon called pseudo-dominance where the recessive allele burden is so high in a given family, that the recessive trait is disproportionately represented. The prevalence of individual forms of albinism are included below: […] OCA1: Prevalence is 1 in 40,000 worldwide but one of the most common forms in America and China (70% of cases) […] OCA2: The most common worldwide (1:39,000). Prevalence as follows: African Americans (1:10,000), overall Americans (1:36,000), Sub-Saharan Africa (1:3,900)

• #11 Albinism epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Albinism_epidemiology_and_demographics

  The prevalence of albinism is estimated to be 1:17,000 to 1:20,000 in the general population. […] In the US, about 18,000 people have albinism. […] The prevalence of different types of albinism varies. […] Oculocutaneous albinism 2 (OCA2) is the most prevalent form. […] The prevalence of different subtypes are as follows: OCA1 occurs in 1: 40,000 individuals worldwide; 70% of cases occurs in America and China. […] OCA2 occurs in 1: 39,000 individuals worldwide; this prevalence is estimated to be 1: 10,000 in African Americans, 1:36,000 in overall Americans, and 1:3,900 in Sub-Saharan Africa. […] OCA3 occurs in 1: 8500 individuals in Africa. […] OCA4 occurs in 1: 100,000 individuals; accounts for 24% of Japanese albinism. […] OCA5, OCA6, and OCA7 cases are very rare. […] Hermansky-Pudlak syndrome (HPS) occurs in 1: 500,000 population worldwide; the prevalence of HPS is 1:1800 in Puerto Rico.

• #12 Albinism – StatPearls – NCBI Bookshelf

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

  OCA3: Prevalence is 1: 8500 of African individuals primarily in southern Africa. It can also be seen in Pakistani, German, Indian, and Japanese populations. […] OCA4: Prevalence is 1:100,000 but accounts for 24% of Japanese OCA. It is also described in German, Turkish, Indian, Korean, Chinese, Danish, and Moroccan, populations. […] OCA5: Very rare, only mentioned in a case report of a Pakistani family […] OCA6: Very rare, case reports in a Chinese family and a man from eastern India […] OCA7: Very rare, consanguineous Faroese family […] Hermansky-Pudlak syndrome (HPS): Prevalence is 1:500,000 worldwide but 1:1800 in Puerto Rico […] Chediak-Higashi syndrome (CHS): Very rare (less than 500 cases published in the past 20 years) […] Angelman syndrome (AS) and Prader-Willi syndrome (PWS): Prevalence of AS (1:12,000 to 20,000) and PWS (1:15,000) are higher than the OCAs. However, only approximately 1% of AS and PWS sufferers have contiguous gene deletions that lead to OCA2-like presentation […] Ocular albinism (OA1): Prevalence is 1:50,000.

• #13 Albinism epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Albinism_epidemiology_and_demographics

  Chediak-Higashi syndrome (CHS) is very rare; less than 50 cases were identified in the last 20 years. […] Ocular albinism (OA1) occurs in 1:50,000 individuals. […] As albinism is a hereditary disease, it can be diagnosed from early ages of life. […] There is no racial predilection to albinism. […] Since ocular albinism is considered a X-linked recessive, it affects man more than women.

• #14 SciELO Brazil – Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors

  https://www.scielo.br/j/abd/a/RwGPXJzknk9FnxMkDBjRPyg/

  In Brazil, the epidemiology of albinism has not been mapped. […] The incidence is thought to be higher in regions with a greater prevalence African descent, such as the Northeast. […] The population of Bahia, Brazil’s third most populous state, is mostly of African or mixed descent. […] The few studies and reports available in the scientific literature suggest that figures for albinism in Brazil resemble those of Africa. […] However, it is unclear whether these numbers reflect the true situation in the country, highlighting the need for the government to register albinism in official databases or conduct population-based studies that provide a reliable estimate of these figures. […] Thus, there is a general paucity of studies mapping the epidemiology of albinism in Brazil. Further studies are needed to provide a deeper understanding on the distribution and incidence of this genetic disorder in the country and the consequent devising of more objective and assertive strategies for the condition.

• #15 Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors | Anais Brasileiros de Dermatologia (Portuguese)

  https://www.anaisdedermatologia.org.br/pt-albinism-epidemiology-genetics-cutaneous-characterization-articulo-S0365059619300583

  In Brazil, the epidemiology of albinism has not been mapped. There are scant epidemiological studies and no information is held in government databases on the incidence of the genetic disorder in the country. […] The few studies and reports available in the scientific literature suggest that figures for albinism in Brazil resemble those of Africa. However, it is unclear whether these numbers reflect the true situation in the country, highlighting the need for the government to register albinism in official databases or conduct population-based studies that provide a reliable estimate of these figures. […] The occurrence of albinism is associated with difficulties and disadvantages, resulting from the genetic disorder and social segregation. There is stigma related to the disease that affects albinos and their families. […] These factors contribute to an increase in the morbimortality associated with the condition, including actinic damage and skin cancer.

• #16 Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors | Anais Brasileiros de Dermatologia

  http://clinics.elsevier.es/en-albinism-epidemiology-genetics-cutaneous-characterization-articulo-S0365059619300583

  The global incidence of albinism is 1:20,000 individuals, with a lower rate in the United States (1:37,000), while the highest rate reported in the literature to date is amongst the Cuna indigenous people (in Panama and Colombia), who have an estimated incidence of 6.3 per 1000 population. […] In Brazil, the epidemiology of albinism has not been mapped. […] The few studies and reports available in the scientific literature suggest that figures for albinism in Brazil resemble those of Africa. […] However, it is unclear whether these numbers reflect the true situation in the country, highlighting the need for the government to register albinism in official databases or conduct population-based studies that provide a reliable estimate of these figures. […] The occurrence of albinism is associated with difficulties and disadvantages, resulting from the genetic disorder and social segregation.

• #17 Surveying the Experiences of People with Albinism in Iran: Qualitative Research

  https://brieflands.com/articles/ijpbs-132504

  Oculocutaneous albinism (OCA) is a genetic disease that causes the impaired conversion of melanin, thus leading to the development of vision impairment and skin/hair-related complications. This disease can also cause extensive psychosocial consequences for patients with this disease. […] The prevalence of albinism in the world is 1: 20,000. Its prevalence is high in some regions such as East Africa as well as regions of Panama and Columbia, but in the US, its prevalence is low. […] No official statistics exist regarding the number of patients with albinism in Iran, though according to estimations, the population of these people in Iran varies between 5,000 and 35,000. […] The findings of this research can provide a deeper understanding of the needs of these people for providing optimal care and ultimately promote their psychosocial well-being and also can be employed in developing interpretive theories about the biopsychosocial conditions of PWA.

• #18 Frontiers | Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene

  https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.936064/full

  Hermansky–Pudlak syndrome (HPS) is a group of rare autosomal recessive disorders characterized by oculocutaneous albinism (OCA) and bleeding diathesis. […] HPS is a rare disorder with a frequency estimated at 1–9 per 1,000,000. The disease is especially prevalent among the Puerto Rican population but is also found in Japan, India, Swiss, Ireland, South America, and Western Europe. […] To date, 11 types of HPS have been reported (HPS-1 to HPS-11), each defined by variants in a specific gene that encodes components of four protein complexes, namely, adaptor protein-3 and biogenesis of lysosome-related organelle complex-1–3 (BLOC-1–3), that impact membrane trafficking and protein sorting to facilitate lysosome-related organelle (LRO) maturation. […] Overall, the estimated prevalence of OCA in the Israeli population is approximately 1 in 10,000 and is caused by several genes including mainly TYR, P, HPS1, and HPS3, and even some mutations in HPS4 were described in a patient of Ashkenazi Jewish origin. […] This work emphasizes the importance of screening for HPS mutations in populations prone to have founder mutations to avoid misdiagnosis of HPS.

• #19 Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues | Kromberg | African Journal of Disability

  https://ajod.org/index.php/ajod/article/view/877/1984

  Estimates of the prevalence rates of albinism range widely throughout the world. However, the few available studies on epidemiology vary in quality and reliability and in some cases are based on small, inadequate samples. A worldwide rate of 1 in 17 000 was suggested by Witkop, Quevedo and Fitzpatrick (1983), and although this is probably outdated, no new estimates have been published. […] The available statistics from the few published sub-Saharan African studies, with large samples and comprehensive ascertainment methods, are all greater than 1 in 5000 (Kromberg 2018b). Some examples of the rates of albinism in South Africa and its neighbouring countries are summarized in Table 1. […] The higher rates occurring in Africa could be maintained by selective advantage of the carriers of a gene for albinism, if they are lighter in skin colour (as suggested by Oettle 1963 and confirmed by Kromberg 1985) and preferred as marriage partners, and/or by mating patterns (such as preferences for consanguineous mating).

• #20 Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues

  http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S2226-72202022000100046

  The higher rates occurring in Africa could be maintained by selective advantage of the carriers of a gene for albinism, if they are lighter in skin colour (as suggested by Oettle 1963 and confirmed by Kromberg 1985) and preferred as marriage partners, and/or by mating patterns (such as preferences for consanguineous mating).

• #21 Albinism: Types, Symptoms, and Causes

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

  Approximately 1 in 17,000 people in Europe and the USA have one of the types of albinism, although in some parts of the world it is more common than this. […] In sub-Saharan Africa cultural norms permit marriages between family members. This lack of genetic mixing means the prevalence increases up to 1 in 1000. […] Albinism can affect all races and also affects other species, such as mice. […] Most children with albinism are born to parents who have normal hair and eye colour for their ethnic backgrounds. […] Albinism is divided into OCA (which is more common and has many forms) and ocular albinism (OA), which is rare. […] The genes for occulocutaneous albinism (OCA) are located on 'autosomal’ chromosomes. […] For a recessive condition (like most types of albinism) to occur, both of the person’s chromosomes must carry that trait – that is, the one from the mother and the one from the father.

• #22

  https://link.springer.com/article/10.1007/s12687-025-00786-3

  Results showed that only a few countries worldwide (26/193; 13%) had produced prevalence figures for OCA. […] The findings showed that it was not possible to determine a single, generalizable worldwide prevalence for OCA, and highlighted the importance of generating good and current data in order to create public awareness and advocate for better healthcare, especially in underserved populations.

• #23 Research

  https://www.albinismalliance.org/research

  In many regions of the world, particularly in the tropics, a significant proportion of persons with albinism develop skin cancer before the age of 30, with some cases arising even in childhood. […] Despite the alarming scale of this public health issue, only a limited number of studies have been conducted to enhance understanding of skin cancer in PWA. Consequently, data on its epidemiology and prevalence remain scarce. […] This lack of evidence and knowledge poses a significant barrier to effective advocacy and hinders the development of appropriate policies and programs to address this critical issue. […] To tackle this challenge, the GAA has initiated a series of activities aimed at promoting research on skin cancer in persons with albinism. […] A significant step forward was taken in 2023 with the establishment of a collaboration with the International Agency for Research on Cancer (IARC), the specialized cancer agency of the World Health Organization whose mission is to foster international collaboration in cancer research.

• #24

  https://link.springer.com/article/10.1007/s12687-025-00786-3

  The frequency of albinism in southern Africa was determined in a Johannesburg-based project (Kromberg and Jenkins 1982). […] The results of this study showed that 1 in 3900 individuals in this community had OCA. […] Further studies on OCA prevalence were carried out in two of South Africa’s neighbouring countries, Swaziland (now Eswatini) and Botswana, which had never been studied previously. […] The final prevalence figure was 1 in 1951, higher than in most other Southern African countries (Kromberg 2018c). […] At the suggestion of a representative from the United Nations, working for human rights for persons with albinism, members of the South African research team were encouraged, more recently, to undertake a systematic review of the literature, interrogating the existing prevalence data for OCA worldwide.

• #25 #community #data #epidemiology #albinism #publichealth #vaccines | Zahra Fazal

  https://www.linkedin.com/posts/zahra-fazal_community-data-epidemiology-activity-7080273067712671745-sblG

  Excited to announce that my research study in Tanzania has been selected as one of the 2023 winners of the SEEDS Global health grant by the Stanford Center for Innovation in Global Health. […] This award would allow our study to collect data in two regions of Tanzania to promote vaccine equity for people with albinism and to sustain partnerships with grassroots community organizations. […] I am grateful for my continued training at the Stanford University School of Medicine department of Epidemiology. […] Congratulations to the 17 winners of our 2023 Global Health Seed Grant awards! This years winning grants span numerous disciplines and multiple continents, involving a range of international and local partners.

• #26

  https://globalhealth.stanford.edu/research/data-is-a-neighbor-not-a-number.html/

  In Tanzania, people with albinism face historic discrimination and barriers to healthcare. […] A new research project funded by a Stanford Global Health Seed Grant has been working to understand and address the impacts of the pandemic on one particularly vulnerable group: people with albinism in Tanzania. […] Tanzania has one of the highest rates of albinism in the world, and historic myths and misunderstandings about the condition have led to this community facing stigma, segregation, physical attacks, and even murder. […] Because of this discrimination, people with albinism often live in poverty and face barriers to health care that make them particularly susceptible to infectious disease outbreaks. […] Alongside her mentor Dr. Steve Luby, Stanford Medicine’s Associate Dean of Global Health Research, she successfully applied for a 2023 Global Health Seed Grant. The grant, funded by the Stanford Department of Medicine and Stanford Center for Innovation in Global Health, supported a community-engaged study — the first of its kind — to understand vaccination uptake, barriers, and attitudes among people with albinism in Tanzania.

• #27 Top Published Expert Doctors for Oculocutaneous Albinism

  https://findexpertmd.com/d/Oculocutaneous_Albinism

  270 top medical experts on Oculocutaneous Albinism across 46 countries and 19 U.S. states, including 118 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants. […] Clinical Trials ClinicalTrials.gov: at least 8 including 6 Completed.

• #28 Squamous-cell carcinoma in situ in a patient with oculocutaneous albinism

  https://escholarship.org/uc/item/6cj1p1xn

  A 36-year-old African man from Guinea with a history of albinism presented with a many-year history of scaling and erythema of the face, neck, and arms. […] Skin cancer surveillance is an important consideration for albinos, and sun protection is paramount. […] Albinism is becoming an important public health issue, especially in Africa, where OCA 2 is particularly prevalent. […] Sun protection is inadequate in African albinos, which has serious consequences in this population. […] As a result of their increased risk of malignant conditions, total body skin examination is recommended for these patients at least twice yearly for skin cancer surveillance.

• #29

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6857599/

  Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. […] In Brazil, as in other parts of the world, albinism remains a little known disorder, both in relation to epidemiological data and to phenotypic and genotypic variation. […] Consequently, actinic damage and skin cancer occur early and have a high incidence in this population, often leading to premature death. […] Skin monitoring of these patients and immediate therapeutic interventions have a positive impact in reducing the morbidity and mortality associated with this condition. […] The aim of this article is to present a review of the epidemiological, clinical, genetic, and psychosocial characteristics of albinism, with a focus in skin changes caused by this rare pigmentation disorder.

• #30

  https://journals.lww.com/pigi/fulltext/2024/11020/dermoscopy_in_albinism.6.aspx

  Albinos are at great risk for developing cutaneous malignancy. […] We hereby emphasize the role of dermoscopy for monitoring and screening of skin tumors in albinism and other genodermatosis prone to skin tumors. […] Dermoscopy has been widely used for the evaluation of pigmented lesions and the benefits of its use have been enormous. […] We hereby report the use of dermoscopy as an important screening and monitoring tool for skin tumors in albinism. […] Cutaneous neoplasms share an inverse relationship with the degree of skin pigment. […] Many albinos develop skin cancers before the age of 30 years and its sequelae are among the leading causes of early deaths. […] They are prone to premalignant lesions such as actinic keratosis and malignant lesions such as the squamous cell carcinoma, basal-cell carcinoma, and rarely malignant melanoma. […] This clue can be used for monitoring and screening of premalignant lesions in these patients of oculocutaneous albinism.

• #31 Photosensitivity and filter efficacy in albinism✰ | Journal of Optometry

  https://www.journalofoptometry.org/en-photosensitivity-filter-efficacy-in-albinism-articulo-S1888429622000425

  Photosensitivity was rated as some to worst imaginable in 77.8% of participants. […] Photosensitivity is common in albinism, but research targeting treatment is limited. […] The aim of this study was to describe the prevalence and severity of photosensitivity in patients with albinism and to evaluate how subjective photosensitivity correlates with ocular features such as iris transillumination, retinal hypopigmentation, visual acuity, contrast sensitivity and not least, how these factors affect the choices made by patients during optical rehabilitation offering a broad range of optical filters. […] Photosensitivity was found to be very common in patients with albinism, especially those with fundus hypopigmentation and poor visual acuity, and that neutral filters were preferred to alleviate the complaint and that most participants needed different spectacles for indoor and outdoor with an increased need for filters in outdoor spectacles.

• #32

  https://journals.lww.com/pigi/fulltext/2023/10010/cross_sectional_study_on_clinical_profile_and.6.aspx

  Most of the health implications of albinism are largely preventable as they depend on exposure to ultraviolet radiation from sunlight hence requires public health intervention. […] Despite the knowledge of need for sun protection in 90.8%, 57% participants had daily sun exposure between 8 am and 4 pm; and 43% had work that exposed them to the sun. […] In spite of the knowledge of sun damage and the need for photoprotection in a large number of our patients, there was still 95.8% prevalence of photodamage among the cohort which was similar to findings by Okoro and Olumide three to four decades ago. […] The QoL was impaired in more than 99% of the adult participants and the greatest effect was in the domain of symptoms and feelings followed by daily activities, leisure, work, and personal relationship.

• #33 Albinism – symptomatology, aetiology, and therapy

  https://www.termedia.pl/Albinism-symptomatology-aetiology-and-therapy,127,55703,1,1.html

  The worldwide prevalence of albinism is estimated at 1 : 17,000 to 1 : 20,000. […] The most common form of isolated albinism (1 : 39,000) is OCA2 with a prevalence in African Americans of 1 : 10,000), in all Americans at 36,000, and in Sub-Saharan Africans at 1 : 3900. […] OCA1, with a prevalence of 1 : 40,000, occurs the most frequently among Europeans, and it is one of the most common forms of OCA in America and China, accounting for 70% of cases. […] The overall prevalence of OA is estimated at 1 : 60,000.

• #34 Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors | An. bras. dermatol;94(5): 503-520, Sept.-Oct. 2019. tab, graf | LILACS

  https://pesquisa.bvsalud.org/portal/resource/en;/biblio-1054862

  Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. […] In Brazil, as in other parts of the world, albinism remains a little known disorder, both in relation to epidemiological data and to phenotypic and genotypic variation. […] Consequently, actinic damage and skin cancer occur early and have a high incidence in this population, often leading to premature death. […] Skin monitoring of these patients and immediate therapeutic interventions have a positive impact in reducing the morbidity and mortality associated with this condition. […] Health education is important to inform albinos and their families, the general population, educators, medical professionals, and public agencies about the particularities of this genetic condition. […] The aim of this article is to present a review of the epidemiological, clinical, genetic, and psychosocial characteristics of albinism, with a focus in skin changes caused by this rare pigmentation disorder.

• #35 Albinism: for patients – Gene Vision

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

  Albinism is an inherited condition that affects approximately 1 in 5,000 to 1 in 17,000 people. […] The severity of the various symptoms associated with albinism is dependent on the extent of melanin deficiency. […] All babies in the UK are screened for eye and other physical problems in the first 72 hours after birth as part of the newborn screening programme. […] Genetic testing should be undertaken to confirm the diagnosis by identifying mutations in one of the 18 genes associated with albinism. […] As albinism is a hereditary condition, families may choose to see a genetic counsellor to obtain more information and advice on inheritance and family planning options. […] 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.

• #36 Albinism: for patients – Gene Vision

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

  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. […] 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) is crucial to optimise their developmental potential. […] Nitisinone is a medication approved by the US Food and Drug Administration(FDA) for the treatment of type 1 tyrosinemia. […] Despite evidence from animal studies suggesting that levodopa supplementation may improve retinal development and therefore visual function, OCA patients enrolled in a phase 1/2 trial did not experience significant improvement in their visual function.

• #37

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6857599/

  The occurrence of albinism is associated with difficulties and disadvantages, resulting from the genetic disorder and social segregation. […] Reports of studies carried out in Bahia, data from the Association of Persons Living with Albinism in Bahia, and the practical experience of the authors indicate that albinos in Brazil, even in major urban centers, suffer prejudice and social exclusion, as well as limited access to specialized medical healthcare and resources.

• #38 Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors | Anais Brasileiros de Dermatologia

  https://www.anaisdedermatologia.org.br/en-albinism-epidemiology-genetics-cutaneous-characterization-articulo-S0365059619300583

  Reports of studies carried out in Bahia, data from the Association of Persons Living with Albinism in Bahia, informal global references, and the practical experience of the authors indicate that albinos in Brazil, even in major urban centers, suffer prejudice and social exclusion, as well as limited access to specialized medical healthcare and resources.

• #39 Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family | Hereditas | Full Text

  https://hereditasjournal.biomedcentral.com/articles/10.1186/s41065-024-00312-4

  Next-generation sequencing technologies, such as WES, are developing rapidly and have been widely used for assisted diagnosis of genetic diseases. It can cover currently known disease-related genes, rapidly discover disease-causing genes, and provide timely and accurate genetic counseling for patients’ families.

• #40

  https://globalhealth.stanford.edu/research/data-is-a-neighbor-not-a-number.html/

  Through the study, we realized that the community’s priority was actually normalizing albinism, and that was important because vaccination hesitancy came from structural barriers related to stigma and misunderstanding, rather than misinformation. […] The research team is also sharing their findings with the office of the United Nations expert on albinism and other international partners to find ways in which interventions can support vaccination efforts for the community. […] We hope our findings will inform future policy around the prioritization of people with albinism in healthcare.

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

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

  In Africa approximately 1 in 20 people carry the gene for albinism. […] Albinism, which affects the production of melanin is a rare condition worldwide, but more common in Africa where approximately 1 in 20 people carry the gene. […] Malawi, Tanzania and Kenya have the highest rates of albinism worldwide, and people with the condition often face discrimination because of misunderstanding about its cause. […] 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.

• #42 Experts Crack Breakthrough Human Model for Albino Eyes – PIE

  https://piemagazine.org/experts-crack-breakthrough-human-model-for-albino-eyes/

  The first ever human-derived stem cell model for studying oculocutaneous albinism (OCA) type 1 and 2 has been developed and this breakthrough paves the way toward more studies to develop potential therapeutics to treat the condition. […] Affected individuals show different levels, from having none to little pigmentation, which increases their risk for skin cancers and negatively affects their visual acuity. […] There is no available treatment for all forms (8 subtypes) of OCA, which is one of the oldest genetic conditions around. […] The implication of a human-derived stem-cell model of OCA is that it is not just an effective in vitro model of the disease, but it forms a powerful platform to dive into the research of melanosome biogenesis at the cellular level. […] The study also fills a gap as there has not been many human cell lines available for the investigation of melanogenesis and the effects of pigmentation.

• #43 Improving the Quality of Life for Patients With Albinism

  https://www.dermatologytimes.com/view/improving-the-quality-of-life-for-patients-with-albinism

  Albinism is present within all ethnic groups and populations worldwide with a global incidence of 1 in 20,000 individuals and has a lower prevalence rate of 1 in 37,000 in the United States; however, the condition is most prevalent in African countries. […] A multidisciplinary approach to patients with albinism is incredibly important and many different health care professionals and specialties are typically involved in the diagnosis, management, and treatment of albinism. […] According to Khachemoune, general practitioners, obstetrician-gynecologists, and pediatricians play a vital role in the recognition of the condition and referring an individual to the appropriate specialists. […] Albinism is a rare genetic disorder that can cause notable physical manifestations but can greatly affect mental health. While some research has been done in this area, the extent of the psychosocial challenges is poorly understood, and additional interventions may improve the quality of life for those affected with this condition, Khachemoune said.

• #44 Sociodemographic and visual characteristics of individuals with oculocutaneous albinism in Botswana | Panicker | African Vision and Eye Health

  https://avehjournal.org/index.php/aveh/article/view/967/2728

  Most of the participants had a low to middle socio-economic status and basic education level, which reflects the broader socio-economic challenges faced by this population. […] A significant portion of the cohort did not require (48 out of 65) or were unwilling (17 out of 65) to receive low vision services. […] Majority of participants had moderate VI, which is in line with previous publication from a cohort of Asian patients with OCA. […] The majority of participants in this study exhibited poor contrast sensitivity, aligning with the findings of previous research. […] Healthcare professionals and policymakers should consider the findings when developing and executing strategies to prevent, identify, and manage VIs. […] The study’s findings emphasise the importance of increasing awareness and education on visual health, especially in communities with limited access to healthcare services. […] There is a high rate of reduced visual function among the study’s participants, highlighting the need for targeted interventions.

• #45 Surveying the Experiences of People with Albinism in Iran: Qualitative Research

  https://brieflands.com/articles/ijpbs-132504

  The aim of present study was to examine the lived experience of people with albinism in Iran, whereby three main themes of challenges, perceived sources of support, and psychological mechanisms of coping with challenges were extracted, which are discussed in three parts. […] The population of this research also experienced various psychosocial challenges in their daily lives, which are related to resenting by others. […] Vision problems and negative prejudices in the society cause serious limitations for finding and persisting in jobs among PWA. […] The findings of this research can be employed in creating and planning the curricula as well as educational and healthcare programs of rehabilitation counseling along with other psychosocial interventions.

Zobacz więcej