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Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options

Hirji, N; Aboshiha, J; Georgiou, M; Bainbridge, J; Michaelides, M; (2018) Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options. Ophthalmic Genetics , 39 (2) pp. 149-157. 10.1080/13816810.2017.1418389. Green open access

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Abstract

Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity, impaired colour vision, photophobia and nystagmus. The symptoms can be profoundly disabling, and there is no cure currently available. However, the recent development of gene-based interventions may lead to improved outcomes in the future. This article aims to provide a comprehensive review of the clinical features of the condition, its genetic basis and the underlying pathogenesis. We also explore the insights derived from animal models, including the implications for gene supplementation approaches. Finally, we discuss current human gene therapy trials.

Type: Article
Title: Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1080/13816810.2017.1418389
Publisher version: https://doi.org/10.1080/13816810.2017.1418389
Language: English
Additional information: Achromatopsia, clinical trials, cone, cone dysfunction syndrome, gene therapy
Keywords: Achromatopsia, clinical trials, cone, cone dysfunction syndrome, gene therapy
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/10042262
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