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Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches

Berry, V; Georgiou, M; Fujinami, K; Quinlan, R; Moore, A; Michaelides, M; (2020) Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches. British Journal of Ophthalmology 10.1136/bjophthalmol-2019-315282. (In press). Green open access

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Abstract

Cataract is the most common cause of blindness in the world; during infancy and early childhood, it frequently results in visual impairment. Congenital cataracts are phenotypically and genotypically heterogeneous and can occur in isolation or in association with other systemic disorders. Significant progress has been made in identifying the molecular genetic basis of cataract; 115 genes to date have been found to be associated with syndromic and non-syndromic cataract and 38 disease-causing genes have been identified to date to be associated with isolated cataract. In this review, we briefly discuss lens development and cataractogenesis, detail the variable cataract phenotypes and molecular mechanisms, including genotype-phenotype correlations, and explore future novel therapeutic avenues including cellular therapies and pharmacological treatments.

Type: Article
Title: Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/bjophthalmol-2019-315282
Publisher version: https://doi.org/10.1136/bjophthalmol-2019-315282
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/.
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/10094573
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