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The Cone Dysfunction Syndromes

Aboshiha, J; Dubis, AM; Carroll, J; Harcastle, AJ; Michaelides, M; (2016) The Cone Dysfunction Syndromes. British Journal of Ophthalmology , 100 (1) pp. 115-121. 10.1136/bjophthalmol-2014-306505. Green open access

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Abstract

The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision, and varying degrees of colour vision abnormalities, nystagmus and photophobia. This review details the following conditions: complete and incomplete achromatopsia, blue-cone monochromatism, oligocone trichromacy, bradyopsia, and Bornholm eye disease. We describe the clinical, psychophysical, electrophysiological and imaging findings that are characteristic to each condition, in order to aid their accurate diagnosis, as well as highlight some classically held notions about these diseases that have come to be challenged over recent years. The latest data regarding the genetic aetiology and pathological changes observed in the cone dysfunction syndromes are discussed, and, where relevant, translational avenues of research, including completed and anticipated interventional clinical trials, for some of the diseases described herein will be presented. Finally, we briefly review the current management of these disorders.

Type: Article
Title: The Cone Dysfunction Syndromes
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/bjophthalmol-2014-306505
Publisher version: http://dx.doi.org/10.1136/bjophthalmol-2014-306505...
Language: English
Additional information: This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/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/1462933
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