Cone-rod dystrophy is a progressive photoreceptor disorder which has multiple inheritance patterns. It is rare, with a prevalence of 1 in 40,000. Macular cysts are well recognised in other photoreceptor conditions such as retinitis pigments and choroideraemia, while they are less well recognised in cone-rod dystrophy. In this study 36 patients with cone rod dystrophy were enrolled into the study, with 32 having established disease, and four being new patients. Of the 32 established patients, none had previously been diagnosed with macular oedema, or for that matter had an OCT of the macula. All patients in this study had autosomal recessive subtype of cone rod dystrophy. Of the 36 patients, 17 were shown to have diffuse pigmentary degenerative changes at the macula, and the remaining 19 patients demonstrated normal or negligible ‘mottling’ within the fovea. Of the total 72 eyes that were examined, none demonstrated macular oedema on biomicrosopy or OCT imaging. All, however, did show a degree of retinal thinning. The study is useful in that it demonstrates macular oedema is not a common finding in cone rod dystrophy, but it is limited by the number of participants, and the fact that a number of the participants were related and were therefore likely to have similar genotypes.

The prevalence of macular cysts in patients with clinical cone-rod dystrophy determined by spectral domain optical coherence tomography.
Salvatore S, Genead MA, Fishman GA, et al.
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Huw Edward Oliphant

West Sussex NHS Trust, UK

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