Article
GPR143 gene mutation analysis in pediatric patients with albinism.
Ophthalmic genetics - 1 Sept 2012
Trebušak Podkrajšek Katarina, Stirn Kranjc Branka, Hovnik Tinka, Kovač Jernej, Battelino Tadej
Abstract excerpt
BACKGROUND: X-linked ocular albinism type 1 is difficult to differentiate clinically from other forms of albinism in young patients. X-linked ocular albinism type 1 is caused by mutations in the GPR143 gene, encoding melanosome specific G-protein coupled receptor. Patients typically present with moderately to severely reduced visual acuity, nystagmus, strabismus, photophobia, iris translucency, hypopigmentation...
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