A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness

Autosomal dominant congenital stationary night blindness (adCSNB) is rare and results from altered phototransduction giving a Riggs type of electroretinogram (ERG) with loss of the rod a-wave and small b-waves. These patients usually have normal vision in light. Only few mutations in genes coding fo...

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Bibliographic Details
Main Authors: Christina Zeitz, Cécile Méjécase, Mathilde Stévenard, Christelle Michiels, Isabelle Audo, Michael F. Marmor
Format: Article
Language:English
Published: Hindawi Limited 2018-01-01
Series:BioMed Research International
Online Access:http://dx.doi.org/10.1155/2018/7694801

Internet

http://dx.doi.org/10.1155/2018/7694801

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