TY - JOUR T1 - Retinal mosaicism in a girl with an X–Y translocation JF - British Journal of Ophthalmology JO - Br J Ophthalmol SP - 243 LP - 243 DO - 10.1136/bjophthalmol-2012-301738 VL - 97 IS - 2 AU - Carole G Cherfan AU - Thomas P Link AU - Dusica Babovic-Vuksanovic AU - Jay W Ellison AU - Michael C Brodsky Y1 - 2013/02/01 UR - http://bjo.bmj.com/content/97/2/243.abstract N2 - To the Editor X-linked ocular albinism is a common disorder of melanosome biogenesis.1 In affected male subjects, it manifests in the form of reduced visual acuity, infantile nystagmus and ocular hypopigmentation.1 Carrier female subjects are minimally affected but may show iris translumination and coarse pattern of blotchy hypopigmentation and hyperpigmentation of the retinal pigment epithelium due to lyonisation.2 ,3 X-linked ocular albinism is caused by mutations in the G protein-coupled receptor 143 (GPR143) gene, also known as the ocular albinism 1 gene located at Xp22.32.1 About 48% of reported mutations in the GPR143 gene are intragenic … ER -