Downloaded from http://bjo.bmj.com/ on January 7, 2016 - Published by group.bmj.com Review The cone dysfunction syndromes Jonathan Aboshiha,1,2 Adam M Dubis,1,2 Joseph Carroll,3 Alison J Hardcastle,1,2 Michel Michaelides1,2 1UCL Institute of ABSTRACT briefly review the management and latest progress Ophthalmology, University The cone dysfunction syndromes are a heterogeneous towards developing effective treatments. College London, London, UK 2Moorfields Eye Hospital, group of inherited, predominantly stationary retinal London, UK disorders characterised by reduced central vision and CONE DYSFUNCTION SYNDROMES 3Department of varying degrees of colour vision abnormalities, Complete achromatopsia Ophthalmology, Medical nystagmus and photophobia. This review details the Complete ACHM (syn. typical ACHM or rod mono- College of Wisconsin, following conditions: complete and incomplete chromatism) is an autosomal-recessive condition Milwaukee, Wisconsin, USA achromatopsia, blue-cone monochromatism, oligocone associated with a lack of cone function,5 which 2 Correspondence to trichromacy, bradyopsia and Bornholm eye disease. We affects about 1 in 30 000 people. It is characterised Michel Michaelides, UCL describe the clinical, psychophysical, electrophysiological by presentation at birth/early infancy with pendular Institute of Ophthalmology, and imaging findings that are characteristic to each nystagmus, poor visual acuity (approximately loga- 11-43 Bath Street, London EC1V 9EL, UK; michel. condition in order to aid their accurate diagnosis, as well rithm of the minimum angle of resolution (logMAR)
[email protected] as highlight some classically held notions about these 1.0), a lack of colour vision and marked photopho- diseases that have come to be challenged over the bia/hemeralopia.