Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous group of inherited retinal diseases characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. These disorders typically present with progressive loss of central vision, colour vision disturbance and photophobia. Considerable progress has been made in elucidating the molecular genetics and genotype–phenotype correlations associated with these dystrophies, with mutations in at least 30 genes implicated in this group of disorders. We discuss the genetics, and clinical, psychophysical, electrophysiological and retinal imaging characteristics of cone and cone-rod dystrophies, focusing particularly on four of the most common disease-associated genes: GUCA1A, PRPH2, ABCA4 and RPGR. Additionally, we briefly review the current management of these disorders and the prospects for novel therapies.
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Contributors JSG conceived, wrote and provided critical revision of the manuscript. MG, AK and ATM provided critical revision of the manuscript. MM supervised and provided critical revision of the manuscript. Figures were produced by MG and JSG.
Funding Supported by grants from the National Institute for Health Research, the Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and the UCL Institute of Ophthalmology, Fight For Sight, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, the Wellcome Trust (099173/Z/12/Z), Retina UK, and the Foundation Fighting Blindness (USA).
Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Not commissioned; externally peer reviewed.
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