Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging

PURPOSE: Several genes causing autosomal-dominant cone-rod dystrophy (AD-CRD) have been identified. However, the mechanisms by which genetic mutations lead to cellular loss in human disease remain poorly understood. Here we combine genotyping with high-resolution adaptive optics retinal imaging to e...

Descripción completa

Detalles Bibliográficos
Autores principales: Song, Hongxin, Rossi, Ethan A, Stone, Edwin, Latchney, Lisa, Williams, David, Dubra, Alfredo, Chung, Mina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2018
Materias:
Laboratory Science
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754866/
https://www.ncbi.nlm.nih.gov/pubmed/29074494
http://dx.doi.org/10.1136/bjophthalmol-2017-310498

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754866/
https://www.ncbi.nlm.nih.gov/pubmed/29074494
http://dx.doi.org/10.1136/bjophthalmol-2017-310498

Ejemplares similares