The cone dysfunction syndromes

The British Journal of Ophthalmology
Jonathan AboshihaMichel Michaelides

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 the 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.

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Citations

Jan 25, 2017·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Jun Woo Park, Soo Jung Lee
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Methods Mentioned

BETA
imaging techniques
gene replacement therapy

Software Mentioned

AOSLO

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