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Oculocutaneous albinism type VII (OCA7)
OMIM number: 615179
Comments closing date: 27/11/2026
Oculocutaneous albinism type VII (OCA7) is an autosomal recessive disorder of pigmentation of
skin, hair, and eyes, caused by LRMDA mutations. The degree of hypopigmentation varies.
Individuals present with predominant eye involvement including nystagmus, iris transillumination, and crossed asymmetry of the cortical visual response (Gronskov et al., 2013). 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 7 has signs and symptoms similar to those seen in people with OCA types 1A, 1B, 2 and 4 which are already licensed by HFEA.
