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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Detalhes bibliográficos
Publicado no:Am J Ophthalmol Case Rep
Main Authors: Ba-Abbad, Rola, Holder, Graham E., Robson, Anthony G., Neveu, Magella M., Waseem, Naushin, Arno, Gavin, Webster, Andrew R.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6438912/
https://ncbi.nlm.nih.gov/pubmed/30976726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2019.03.004
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