Contributor: Gordon K. Klintworth
Oculocutaneous albinism type 5 (rufous oculocutaneous albinism, rufous albinism, red albinism, xanthism, oculocutaneous albinism type 5, OMIM # 278400) is an inherited form of albinism with an autosomal recessive mode of inheritance that occurs in blacks with a frequency of 1 in 8,500. This type of albinism is caused by a mutation in the TYRP1 gene and is genetically a variant of oculocutaneous albinism type 3 [albinism - oculocutaneous type 3] and one of at least 10 distinct types of oculocutaneous albinism. Affected individuals have a bright red to reddish brown coloration of the skin and hair. The irises are reddish brown and slightly transparent and visual acuity is normal or almost normal. Photophobia and nystagmus are mild. The latter is present in ~76% of cases and strabismus is sometimes evident (14%).