Cone - Rod Dystrophy with Ancillary Testing
These are photographs from both eyes of a 15-year-old female who was seen for decreased vision in both eyes. Her visual acuity was 20/160 in the right eye and 20/125 in the left. She had thin arterioles in both eyes (white arrows) and rare bone spicule pigmentation (not illustrated). Ancillary testing confirmed she had cone-rod dystrophy which is a subgroup of inherited retinal diseases associated with the death of photoreceptors, cones worse than rods. This condition causes a loss of color vision earlier and night blindness (nyctalopia) later. Her fundus autoflourescence (FAF) photographs show target lesions in both eyes (green arrow). An absence of the cone photoreceptor bulge in the fovea is evident in her optical coherence tomography images (red arrows). Multifocal electroretinography (mfERG) reveals minimal photoreceptor responses with flat trace arrays (black arrow) consistent with the topographic 3D plots.