The cone dysfunction syndromes

Br J Ophthalmol. 2016 Jan;100(1):115-21. doi: 10.1136/bjophthalmol-2014-306505. Epub 2015 Mar 13.


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.

Keywords: Diagnostic tests/Investigation; Genetics; Imaging; Retina; Vision.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Color Vision Defects / diagnosis
  • Color Vision Defects / genetics*
  • Color Vision Defects / therapy
  • Genotype
  • Humans
  • Phenotype
  • Retinal Cone Photoreceptor Cells / pathology*
  • Retinal Diseases / diagnosis
  • Retinal Diseases / genetics*
  • Retinal Diseases / therapy
  • Syndrome