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Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

Gill, JS; Georgiou, M; Kalitzeos, A; Moore, AT; Michaelides, M; (2019) Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy. British Journal of Ophthalmology 10.1136/bjophthalmol-2018-313278. (In press). Green open access

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Abstract

Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous group of inherited retinal diseases characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. These disorders typically present with progressive loss of central vision, colour vision disturbance and photophobia. Considerable progress has been made in elucidating the molecular genetics and genotype-phenotype correlations associated with these dystrophies, with mutations in at least 30 genes implicated in this group of disorders. We discuss the genetics, and clinical, psychophysical, electrophysiological and retinal imaging characteristics of cone and cone-rod dystrophies, focusing particularly on four of the most common disease-associated genes: GUCA1A, PRPH2, ABCA4 and RPGR Additionally, we briefly review the current management of these disorders and the prospects for novel therapies.

Type: Article
Title: Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/bjophthalmol-2018-313278
Publisher version: http://dx.doi.org/10.1136/bjophthalmol-2018-313278
Language: English
Additional information: This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0
Keywords: dystrophy, genetics, imaging, retina
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/10066977
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