Isolated rod dysfunction associated with a novel genotype of CNGB1

PURPOSE: To describe the clinical and electrophysiological features of an unusual retinopathy in a patient with a novel genotype of CNGB1, mutations in which are implicated in autosomal recessive retinitis pigmentosa (rod-cone dystrophy). OBSERVATIONS: A 61-year old asymptomatic woman was referred t...

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Detalles Bibliográficos
Autores principales: Ba-Abbad, Rola, Holder, Graham E., Robson, Anthony G., Neveu, Magella M., Waseem, Naushin, Arno, Gavin, Webster, Andrew R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438912/
https://www.ncbi.nlm.nih.gov/pubmed/30976726
http://dx.doi.org/10.1016/j.ajoc.2019.03.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438912/
https://www.ncbi.nlm.nih.gov/pubmed/30976726
http://dx.doi.org/10.1016/j.ajoc.2019.03.004

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