Novel frameshift mutation in <i>NYX</i> gene in a Russian family with complete congenital stationary night blindness

<b>Background:</b> 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. <b>Methods:</b> 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. <b>Results:</b> 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 <b>Conclusions:</b> This is probably the first case report with a novel mutation from Russia associated with CSNB1A.