Ocular albinism with late-onset sensorineural deafness

MONDO:0010390

Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.

Also known as: OASD, albinism ocular late onset sensorineural deafness, albinism, ocular, with late-onset sensorineural deafness, deafness and ocular albinism, ocular albinism with sensorineural deafness

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