Article Text

other Versions

PDF
Letter
Retinal mosaicism in a girl with an X–Y translocation
  1. Carole G Cherfan1,
  2. Thomas P Link1,
  3. Dusica Babovic-Vuksanovic2,
  4. Jay W Ellison2,
  5. Michael C Brodsky1
  1. 1Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA
  2. 2Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA
  1. Correspondence to Professor Michael C Brodsky, Mayo Clinic, 200 1st Street SW, Rochester, MN 55905, USA; Brodsky.michael{at}mayo.edu

Statistics from Altmetric.com

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 …

View Full Text

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.