DNA Analysis for Diagnosis of X-Linked Juvenile Retinoschisis When Clinical Examination Is Difficult in a Young Child

X-linked juvenile retinoschisis (XLRS) is an X-linked inherited disorder in which there is a splitting of the superficial layer of the retina. Numerous cases of XLRS have been reported worldwide, and most were caused by mutations in the XLRS1 gene. 1‐3 Key diagnostic tests for XLRS, for example, ophthalmoscopy and electroretinography, are generally difficult to perform in a young child. We present two cases of XLRS. One was a 5-year-old child, who was diagnosed by molecular analysis because his parents strongly requested it.