Novel frameshift mutation in gene in a Russian family with complete congenital stationary night blindness.

The complete form of X-linked congenital stationary night blindness (CSNB1A) is a very rare genetic disease caused by mutation in the NYX gene. CSNB1A-associated several mutations in the NYX gene have been reported earlier. In this case report, we have clinically diagnosed and genetically confirmed a novel mutation associated with CSNB1A in four members of a Russian family. Two male siblings from a family of four siblings (two girls, two boys) with non-progressive stable night blindness since early childhood and high myopia underwent - visual acuity test, perimetry, biomicroscopy, OCT, ophthalmoscopy, electroretinography, color vision Hue test, NGS based whole exome analysis and Sanger sequencing for clinical characterization and genetic confirmation of CSNB. The members are clinically diagnosed and genetically confirmed with CSNB1A. All the patients had a novel frameshift mutation in the NYX gene (c.283delC, p.His95fs, NM_022567.2) that is found to segregate in X-linked manner This is probably the first case report with a novel mutation from Russia associated with CSNB1A.