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Title: Isolated rod dysfunction associated with a novel genotype of CNGB1
Authors: Ba-Abbad, R.
Holder, G.E. 
Robson, A.G.
Neveu, M.M.
Waseem, N.
Arno, G.
Webster, A.R.
Keywords: Cone-isolated retina
Cyclic nucleotide-gated channels
Glutamic-acid rich protein (GARP)
Night blindness
Retinitis pigmentosa
Rod dysfunction
Issue Date: 2019
Publisher: Elsevier Inc
Citation: Ba-Abbad, R., Holder, G.E., Robson, A.G., Neveu, M.M., Waseem, N., Arno, G., Webster, A.R. (2019). Isolated rod dysfunction associated with a novel genotype of CNGB1. American Journal of Ophthalmology Case Reports 14 : 83-86. ScholarBank@NUS Repository.
Rights: Attribution-NonCommercial-NoDerivatives 4.0 International
Abstract: 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 to the inherited retinal disorders clinic because of peripheral retinal pigmentary changes. She had normal visual acuity and color vision. Clinical examination and detailed imaging of the macula were normal, but there was atrophy of the outer retina in the periphery with sparse intra-retinal pigmentation. Electroretinography (ERG) revealed undetectable rod responses, with normal cone-mediated responses. The pattern ERG was normal. Genetic analysis identified two previously unreported variants in CNGB1: (c.2258T > A, p.[Leu753*] and c.807G > C, p.[Gln269His]), shown to be in trans. Conclusions and importance: This report describes a functionally cone-isolated retina in an adult, apparently hemizygous for a novel missense mutation in CNGB1, a novel phenotype for this gene. The p.[Gln269His] allele is the first missense change, within the glutamic acid-rich protein (GARP) domain of CNGB1, to be associated with retinal disease in humans. © 2019 The Authors
Source Title: American Journal of Ophthalmology Case Reports
ISSN: 24519936
DOI: 10.1016/j.ajoc.2019.03.004
Rights: Attribution-NonCommercial-NoDerivatives 4.0 International
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