This 42YO female presented with counting fingers vision OD and 20-25 vision OS. There was no family history of vision loss.
A bull’s-eye pattern of perifoveal atrophy was noted on Optos color and fundus autofluorescence imaging, with loss of photoreceptors on OCT. The outer retinal atrophy extended through the macular center in her right eye, accounting for the counting-fingers vision.
Learning Points:
Cone-rod dystrophy is a group of inherited retinal disorders characterized by loss of cone photoreceptors followed by rod photoreceptors. Symptoms include decreased visual acuity, central vision loss, color vision abnormalities, and photophobia.
Several genes have been implicated, including ABCA4, CRX, GUCY2D, and RPGR. ABCA4 mutations are found in autosomal recessive cone-rod dystrophy as well as Stargardt Disease.
