4.4 Review

Lyonization in ophthalmology

Journal

CURRENT OPINION IN OPHTHALMOLOGY
Volume 24, Issue 5, Pages 389-397

Publisher

LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/ICU.0b013e3283641f91

Keywords

lyonization; retinal mosaicism; X-inactivation; X-linked carrier; X-linked ocular disease

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Funding

  1. Foerderer Fund
  2. Alcon Ocular Genetics Fellowship

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Purpose of reviewTo describe the entity of Lyonization in ocular eye diseases, along with its clinical and counseling implications.Recent findingsSeveral X-linked ocular diseases such as choroideremia, X-linked retinitis pigmentosa, and X-linked ocular albinism may have signs of Lyonization on ocular examination and diagnostic testing. These findings may aid in the proper diagnosis of ocular disease in both female carriers and their affected male relatives.SummaryManifestations of Lyonization in the eye may help in the diagnosis of X-linked ocular diseases which may lead to accurate diagnosis, appropriate molecular genetic testing and genetic counseling.

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