Cone Dystrophy - 12-year Follow-Up

This montage of images and a multifocal electroretinogram (mfERG) study from a 23-year-old man with cone dystrophy. He was diagnosed at age 3. His visual acuity stabilized around 20/100 in each eye for the past 20 years. You can see the characteristic bullseye maculopathy in the fundus images (green arrow). The fundus photos are taken 12 years apart and the bullseye has not changed in shape or size. The FAF also shows the bullseye maculopathy (red arrow) in which the bright ring represents excess accumulation of lipofuscin within retinal pigment epithelial (RPE) cells and the dark center an area of RPE dropout. Additionally, you can see the loss of the RPE and the photoreceptors on the OCT (yellow arrrows). The response amplitudes of the mfERG are decreased (turquoise arrow).