Novel unreported mutations in two cases of X-linked retinoschisis in Indian eye

We report two cases of X-linked retinoschisis (XLRS) with novel gene mutation. The first case revealed a hemizygous nonsense variant (c.440G>A) in exon 5 of the RS1 gene and the second case revealed a hemizygous missense variant (c.286T>G) in exon 4 of the RS1 gene. These gene mutations in XLRS are yet to be reported in published literature. Genetic mutations can have ethnic variations, and understanding novel mutations can help in genotype–phenotype correlation in a better way.