Ba-Abbad, R;
Holder, GE;
Robson, AG;
Neveu, MM;
Waseem, N;
Arno, G;
Webster, AR;
(2019)
Isolated rod dysfunction associated with a novel genotype of CNGB1.
American Journal of Ophthalmology Case Reports
, 14
pp. 83-86.
10.1016/j.ajoc.2019.03.004.
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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.
Type: | Article |
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Title: | Isolated rod dysfunction associated with a novel genotype of CNGB1 |
Location: | United States |
Open access status: | An open access version is available from UCL Discovery |
DOI: | 10.1016/j.ajoc.2019.03.004 |
Publisher version: | https://doi.org/10.1016/j.ajoc.2019.03.004 |
Language: | English |
Additional information: | Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/BY-NC-ND/4.0/). |
Keywords: | Cone-isolated retina, Cyclic nucleotide-gated channels, Glutamic-acid rich protein (GARP), Night blindness, Retinitis pigmentosa, Rod dysfunction |
UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
URI: | https://discovery.ucl.ac.uk/id/eprint/10072390 |
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