Clinical Evaluation and Cone Alterations in Choroideremia

Choroideremia is a rare retinal dystrophy (OMIM #303100; prevalence 1/50 000) with progressive atrophy of the retinal pigment epithelium, choriocapillaris, and concomitant loss of photoreceptors. As development of therapies highlights the need for fine markers in this disease, we have investigated a large patient series by examining the cone density and progression of the atrophy in the central islet through adaptive optics and retinal autofluorescence, respectively.