Article
Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.
Molecular vision - 1 Jan 2014
Malaichamy Sivasankar, Sen Parveen, Sachidanandam Ramya, Arokiasamy Tharigopala, Lancelot Marie Elise, Audo Isabelle, Zeitz Christina, Soumittra Nagasamy
Abstract excerpt
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...
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