M. Gopal Kishan1, Sheetal Baldava2, Syed Shah Asadullah H3
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.
