Pathogenesis and clinical features of congenital stationary night blindness in case of c.283delC NYX gene mutation

Pathogenesis and clinical features of congenital stationary night blindness in case of c.283delC NYX gene mutation

The complete form of X-linked congenital stationary night blindness (CSNB) is a rare genetic disease caused by a mutation in the NYX gene. CSNB is associated with the mutations taking place in 17 genes, whilst its CSNB1A form is caused by the mutations in the NYX gene, which were characterized earli...

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Bibliographic Details
Main Authors: M. E. Ivanova, K. V. Gorgisheli, I. V. Zolnikova, D. S. Atarshchikov, D. Barh, Zh. M. Salmasi, L. M. Balashova
Format: Article
Language:Russian
Published: Real Time Ltd 2019-08-01
Series:Российский офтальмологический журнал
Subjects:
csnb1a
nyx
congenital stationary night blindness
gene therapy
leucine-rich domain
Online Access:https://roj.igb.ru/jour/article/view/304

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