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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Detalles Bibliográficos
Autores principales: Zeitz, Christina, Méjécase, Cécile, Stévenard, Mathilde, Michiels, Christelle, Audo, Isabelle, Marmor, Michael F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937575/
https://www.ncbi.nlm.nih.gov/pubmed/29850563
http://dx.doi.org/10.1155/2018/7694801

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937575/
https://www.ncbi.nlm.nih.gov/pubmed/29850563
http://dx.doi.org/10.1155/2018/7694801

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