X-Linked Juvenile Retinoschisis (RS1)

X-linked juvenile retinoschisis is a pan-ethnic disorder that is caused by pathogenic variants in the RS1 gene. It is inherited in an X-linked manner, and therefore typically only males are affected. Age of onset is usually in infancy or childhood. X-linked juvenile retinoschisis is characterized by a splitting of the retinal nerve, which results in reduced visual acuity. Vision decreases in childhood and adolescence but remains stable for much of the patients adult life. Life expectancy is not affected, and no clear genotype-phenotype correlation has been reported.









Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

X-Linked Juvenile RetinoschisisRS11-6 [6] (*10)XLWorldwide< 1 in 50059%0.000821018062397373