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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

https://doi.org/10.1136/bjophthalmol-2012-301738

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    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 …

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    Footnotes

    • Funding Supported by a grant from Research to Prevent Blindness, Inc.

    • Contributors All authors have contributed to this submission.

    • Competing interests None.

    • Provenance and peer review Not commissioned; externally peer reviewed.