The cone dysfunction syndromes.

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.

• Authors: Jonathan Aboshiha, Adam M Dubis, Joseph Carroll, Alison J Hardcastle, Michel Michaelides
• Journal: The British journal of ophthalmology (Br J Ophthalmol) Vol. 100 Issue 1 Pg. 115-21 (Jan 2016) ISSN: 1468-2079 [Electronic] England
• PMID: 25770143 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review)
• Copyright: Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Topics

• Color Vision Defects (diagnosis, genetics, therapy)
• Genotype
• Humans
• Phenotype
• Retinal Cone Photoreceptor Cells (pathology)
• Retinal Diseases (diagnosis, genetics, therapy)
• Syndrome