ABCA-4 Retinal Dystrophy

A patient with bilateral progressive vision loss presents to the clinic for evaluation. The patient’s initial vision was hand motion in both eyes. Fundus photos shows extensive retinal degeneration, geographic atrophy, and optic nerve pallor. ABCA-4 related retinopathies typically present as macular dystrophies, however in certain cases may have more pronounced phenotypes. Emerging treatments for ABCA-4 related retinopathies and Stargardt disease include oral therapies, gene therapies, and stem cell transplantation.

Presentation Date: 12/01/2022

Issue Date: 12/23/2022