UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Isolated rod dysfunction associated with a novel genotype of CNGB1

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. Green open access

[thumbnail of Abbad_1-s2.0-S2451993618303232-main.pdf]
Preview
Text
Abbad_1-s2.0-S2451993618303232-main.pdf - Published Version

Download (1MB) | Preview

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
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
Downloads since deposit
47Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item