Late-Onset Retinal Degeneration Caused by C1QTNF5 Mutation: Sub–Retinal Pigment Epithelium Deposits and Visual Consequences

Two decades ago, a postmortem eye donor study identified a unique autosomal dominant disease and named it late-onset retinal degeneration (L-ORD).¹ The distinguishing feature of L-ORD was a retina-wide thick layer of extracellular deposit between the retinal pigment epithelium (RPE) and Bruch membrane. A founder mutation, p.Ser163Arg, in C1QTNF5 was causative.² Recent study of the crystal structure of C1QTNF5 suggested that L-ORD may be caused by reduced adhesion of the RPE.³