Oculocutaneous albinism type IV (OCA4)
OMIM number: 606574
Comments closing date: 15/03/2026
Oculocutaneous albinism type IV (OCA4) is an autosomal recessive disorder of pigmentation of skin, hair, and eyes, caused by SLC45A2 mutations. The degree of hypopigmentation varies from mild to severe. Hair colour ranges from white through yellow and blond to brown, with grey, blue-grey, or brown irises. Nystagmus may be present (Inagaki et al., 2004). Other ocular abnormalities include decreased visual acuity, macular hypoplasia, optic dysplasia, or atypical choroidal vessels (Rundshagen et al., 2004). Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Type 4 has signs and symptoms similar to those seen in people with type 2. OCA types 1A, 1B, and 2 are already licensed by HFEA.
