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Albinism is described as a congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin. The packet lists two subtype entries, X-linked recessive ocular albinism and albinism-hearing loss syndrome, indicating that subtypes of the condition exist. Causal genes, onset category and prevalence are not certified in this packet.
Symptom-level phenotype data are not certified in this packet. The definition describes partial or complete absence of melanin pigment in the eyes, hair, or skin as the characteristic feature.
Data assembled from 3 of 12 sources · Last updated Nov 4, 2026, 12:33 AM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Genetic and Rare Diseases Info Center
No causal genes or inheritance patterns are certified in this packet, so no gene-level or inheritance statements are made here. The definition describes the underlying characteristic as reduced or absent melanin pigment.
Treatment coverage is not certified in this packet.
Diagnostic methods are not certified in this packet.
8 trials found
Prognosis is not certified in this packet.
Certified active trial records are present for this condition, and several are listed. One is NCT07313618, an Early Phase 1 study titled Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1) (recruiting; West China Hospital). Others include NCT06138509, Peripheral Serotonin and Albinism (recruiting; Assistance Publique - Hopitaux de Paris), and NCT06345976, Functional Impairment in Albinism (recruiting; Fondation Ophtalmologique Adolphe de Rothschild). Broader registry and sequencing studies that include rare inherited ophthalmic diseases or genodermatoses also appear, such as NCT06491615, the National Ophthalmic Genotyping and Phenotyping Network, Stage 3 (recruiting; National Eye Institute), and NCT06330350, a qualitative study on reproductive counselling in genodermatoses (recruiting; Maastricht University Medical Center). A title does not establish the intervention studied or its efficacy. Active clinical trials for this condition are listed on ClinicalTrials.gov.
AI-curated news mentioning albinism
Updated Jun 5, 2026
A pilot study explores the dyadic adjustment and quality of life in individuals with albinism, highlighting their shared experiences with loved ones. This research contributes to understanding the psychosocial aspects of living with albinism.
A recent study highlights the unique epidemiological and clinical features of albinism in Europe, providing insights into its management. This research contributes to the understanding of albinism, which affects individuals with varying degrees of pigmentation.