ReviewArchives of dermatological research2023
Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.
Review in Archives of dermatological research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- A participatory systematic review on human rights and the birth of a child with albinism in sub-Saharan Africa.Women's health (London, England)Pooled it
- A novel TYR variant implicated in oculocutaneous albinism type 1 (OCA1): a study in an indigenous population in Southern Brazil.Journal of community genetics · 2026Article
- Vesicular Transport Mediated by Endoplasmic Reticulum Stress Sensor BBF2H7 Orchestrates Melanin Production During Melanogenesis.International journal of molecular sciences · 2026Article
- Dark Skin Evolution in Early Humans: Revisiting the Skin Cancer Hypothesis Through Migration-Related Mismatch.Molecular biology and evolution · 2026Review
- Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A NovelClinical case reports · 2025Article
- Strabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters.Neurogenetics · 2025Review
- The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.European journal of human genetics : EJHG · 2024Article
- Exploration of Compounds with 2-Phenylbenzo[Molecules (Basel, Switzerland) · 2024Article
- Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.Journal of clinical medicine · 2024Review
- Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.Hereditas · 2024Article
- Article
- Vision-Related Quality of Life in Danish Patients with Albinism and the Impact of an Updated Optical Rehabilitation.Journal of clinical medicine · 2023Article
- Skin Pigmentation Types, Causes and Treatment-A Review.Molecules (Basel, Switzerland) · 2023Review
- Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective.European journal of pediatrics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Oculocutaneous albinism (OCA) is a group of rare, inherited disorders associated with reduced melanin biosynthesis. Clinical manifestations of the eight known subtypes of OCA include hypopigmented skin, eyes, and hair and ocular manifestations, such as decreased visual acuity and nystagmus. OCA affects people globally but is most prevalent in African countries. Individuals with oculocutaneous albinism lack UV protection and are prone to skin damage and skin cancers. For many African albino individuals, there are significant challenges in seeking treatment for skin cancer and preventing sun damage due to psychosocial factors and poor education. This review summarizes the current understanding of the epidemiology, genetics, and clinical manifestations of OCA. We also discuss the medical and psychosocial challenges that affect individuals with OCA and the current landscape of albinism treatment modalities. The extent of the psychosocial challenges needs to be better understood and additional educational interventions may improve quality of life for people with albinism.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.