Clinical characteristics of early retinal disease due to CDHR1 mutation

PURPOSE: To describe the early clinical and electrophysiological features of cone-rod dystrophy due to a mutation of cadherin-related family member 1 (CDHR1). METHODS: Three affected siblings from a consanguineous family were ascertained. The clinical data included retinal examination, Goldmann visu...

Descripción completa

Detalles Bibliográficos
Autores principales: Ba-Abbad, Rola, Sergouniotis, Panagiotis I., Plagnol, Vincent, Robson, Anthony G., Michaelides, Michel, Holder, Graham E., Webster, Andrew R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3834600/
https://www.ncbi.nlm.nih.gov/pubmed/24265541

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3834600/
https://www.ncbi.nlm.nih.gov/pubmed/24265541

Ejemplares similares