Journal
CURRENT OPINION IN OPHTHALMOLOGY
Volume 24, Issue 5, Pages 389-397Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/ICU.0b013e3283641f91
Keywords
lyonization; retinal mosaicism; X-inactivation; X-linked carrier; X-linked ocular disease
Categories
Funding
- Foerderer Fund
- Alcon Ocular Genetics Fellowship
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available