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.

A comparative study of structural, functional and circulatory parameters in glaucoma diagnostics.

Purpose: To compare the diagnostic accuracy of structural parameters, vessel density (VD) measured by optical coherence tomography angiography (OCTA), and electrophysiological testing in diagnosis of primary open-angle glaucoma (POAG).

Methods: 35 healthy participants and 90 POAG subjects underwent the measurement of whole image en face (wi) VD in the disc/peripapillary region and macula, the retinal nerve fiber layer (RNFL), and the average thickness of ganglion cell complex (GCC), pattern electroretinograms and pattern visual evoked potentials. The area under the receiver operating characteristic curve (AUC) was assessed for each parameter to differentiate early POAG from healthy eyes and between the POAG stages.

Stargardt disease-associated mutation spectrum of a Russian Federation cohort.

ABCA4-associated mutation screening is extensively performed in European, African, American and several other populations for various retinopathies. However, it has not been well studied in a Russian cohort. Using next-generation (325 genes inherited disease panel) and Sanger sequencing technologies for the first time we documented the spectrum of genetic variations in a Russian retinopathy cohort of 51 patients from 10 ethnic groups.