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

The clinical features of retinal disease due to a dominant mutation in RPE65

Hull, S; Mukherjee, R; Holder, GE; Moore, AT; Webster, AR; (2016) The clinical features of retinal disease due to a dominant mutation in RPE65. Molecular Vision , 22 pp. 626-635. Green open access

[thumbnail of mv-v22-626.pdf]
Preview
Text
mv-v22-626.pdf - Published Version

Download (3MB) | Preview

Abstract

PURPOSE: To present a detailed phenotypic and molecular study of two families with autosomal dominant RPE65-related retinal dystrophy. METHODS: Five patients from two families were ascertained from the retinal clinics of a tertiary referral center. Phenotyping included retinal imaging and electrophysiological testing. Bidirectional Sanger sequencing of exon 13 of RPE65 and its intron–exon boundaries was performed on all reported patients and segregation confirmed in available relatives. The main outcome measures were the results of an ophthalmic examination and investigation and molecular genetic analysis. RESULTS: Four affected patients from two families presented with nyctalopia and central visual disturbance in adulthood progressing to severe visual loss by the fifth to eighth decades. The patients had extensive chorioretinal atrophy with a relatively preserved anterior retina. In the second family, one patient had bilateral, vitelliform-like foveal lesions consistent with adult onset vitelliform macular dystrophy and no peripheral retinal changes. These unrelated families were both heterozygous for c.1430A>G (p.Asp477Gly). One unaffected family member also tested positive for this mutation but had good vision at age 80 years. CONCLUSIONS: Autosomal dominant retinal dystrophy resembling choroideremia can arise from a heterozygous mutation in RPE65. It may manifest with mild disease or be non-penetrant. Awareness of these unusual presentations can facilitate targeted molecular investigation.

Type: Article
Title: The clinical features of retinal disease due to a dominant mutation in RPE65
Open access status: An open access version is available from UCL Discovery
Publisher version: http://www.molvis.org/molvis/v22/626/
Language: English
Additional information: Copyright © 2016 Molecular Vision. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed.
Keywords: Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Ophthalmology, LEBER CONGENITAL AMAUROSIS, RETINITIS-PIGMENTOSA, GENE-THERAPY, VISUAL CYCLE, DYSTROPHY, CHOROIDEREMIA, DEGENERATION, CHILDHOOD, ISOMEROHYDROLASE, PHENOTYPE
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/10047094
Downloads since deposit
14Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item