The Retina Reference

Cone Dystrophy - Bilateral

You should look at the normal retinal anatomy for comparison. Above are images from a 21 year old male with cone dystrophy in both eyes. This bilateral genetic disorder causes progressive color and central vision loss over time. In this case there was no family history of a similar disorder or other eye disease. Cone dystrophy can be caused by many gene mutations, some of which are autosomal recessive, some autosomal dominant, and some X-linked. DNA analysis was not done in this case. In 2004 his best corrected vision was 20/100 in his right eye and 20/125 in his left. His visual acuity in 2016 was 20/125 in both eyes. His color fundus photos, taken in 2004, show bulls-eye lesions caused by macular atrophy (yellow arrows). In his most recent fundus images taken 13 years later, retinal pigment epithelium atrophy is more extensive (black arrows). Optical coherence tomography (OCT) showed loss of foveal photoreceptor layers in both eyes (red arrows) and patchy loss of the retinal pigment epithelium, whereas the green arrows depict where the photoreceptor layer and retinal pigment epithelium are still intact.