ocular albinism

ocular albinism
(OA) X-linked albinism that affects primarily the eyes, with pigment of the hair and skin being normal or only slightly diluted. It is characterized by reduced visual acuity, retinal hypopigmentation, the presence of macromelanosomes in the eyes, nystagmus, photophobia, and hypoplasia of the fovea.

     type 1 (OA1) the classic type of ocular albinism, caused by mutations in the GPR143 (or OA1) gene (locus: Xp22.3), which encodes a G protein–coupled receptor expressed exclusively by melanocytes and retinal pigment epithelium. It is characterized by reduced pigmentation of the irides, nystagmus, head nodding and tilting, photophobia, decreased visual acuity, and strabismus. The pupillary reflex is present, the fundi of the eyes are depigmented, and the choroidal vessels stand out. Heterozygous females show translucent irides and a mosaic of pigmentation in the fundus due to lyonization and may also show nystagmus and photophobia. Called also Nettleship-Falls ocular a. and X-linked ocular a.

     type 2 (OA2) Forsius-Eriksson syndrome, formerly thought to be a form of ocular albinism.


Medical dictionary. 2011.

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