X LINKED JUVENILE RETINOSCHISIS
Journal Title: Journal of Evidence Based Medicine and Healthcare - Year 2015, Vol 2, Issue 16
Abstract
X linked juvenile retinoschisis is a rare genetic disorder affecting males. It is recessively inherited due to mutation in XLRS1 gene, localized to Xp22 region. (1) The characteristic funduscopic findings, are a silver-grey retinal reflex, fovealretinoschisis, and peripheral retinoschisis. Electroretinograms (ERGs) typically record reduced b-wave amplitude with relative preservation of the a-wave amplitude. Visual acuity (VA) usually deteriorates slowly until the patient is about 20 years of age, stabilises, and sometimes deteriorates further because of macular degeneration.
Authors and Affiliations
Gopal Kishan M, Sheetal Baldava, Syed Shah Asadullah H
Keywords
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- EP ID EP227215
- DOI 10.18410/jebmh/2015/356
- Views 75
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