oculocutaneous albinism type 4

oculocutaneous albinism type 4

An inherited disorder of pigmentation (OMIM:606574) characterised by reduced biosynthesis of melanin in the skin, hair and eyes, and classic albinism-type ocular abnormalities: decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels and nystagmus.

Molecular pathology
OCA4 is caused by a mutation of SLC45A2 on chromosome 5p13.2, which encodes a transporter protein that mediates melanin synthesis.
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