Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.

ABSTRACT:

Purpose

Congenital stationary night blindness (CSNB) is a non-progressive retinal disorder that shows genetic and clinical heterogeneity. CSNB is inherited as an autosomal recessive, autosomal dominant, or X-linked recessive trait and shows a good genotype-phenotype correlation. Clinically, CSNB is classified as the Riggs type and the Schubert-Bornschein type. The latter form is further sub-classified into complete and incomplete forms based on specific waveforms on the electroretinogram (ERG). There are no molecular genetic data for CSNB in the Indian population. Therefore, we present for the first time molecular profiling of eight families with complete CSNB (cCSNB).

Methods

The index patients and their other affected family members were comprehensively evaluated for the p

SUBMITTER: Malaichamy S 

PROVIDER: S-EPMC3962728 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature