Retinal mosaicism in a girl with an X–Y translocation

• Published in: British journal of ophthalmology Vol. 97; no. 2; p. 243
• Main Authors: Cherfan, Carole G, Link, Thomas P, Babovic-Vuksanovic, Dusica, Ellison, Jay W, Brodsky, Michael C
• Format: Journal Article
• Language: English
• Published: BMA House, Tavistock Square, London, WC1H 9JR BMJ Publishing Group Ltd 01.02.2013; BMJ Publishing Group LTD
• Subjects: Albinism; Albinism - genetics; Child, Preschool; Chromosomes; Chromosomes, Human, X - genetics; Chromosomes, Human, Y - genetics; DNA - genetics; DNA Mutational Analysis; Eye Proteins - genetics; Female; Genes; Humans; Membrane Glycoproteins - genetics; Mosaicism; Mutation; Retina; Retinal Diseases - congenital; Retinal Diseases - diagnosis; Retinal Diseases - genetics; Retinal Pigment Epithelium - pathology; Translocation, Genetic
• ISSN: 0007-1161; 1468-2079
• DOI: 10.1136/bjophthalmol-2012-301738

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 deletions and about 43% are point mutations. 4 Case report We examined a 3-year-old girl with chromosome abnormality in form of X: