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October 2014

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

Author Affiliations
  • 1Scheie Eye Institute, University of Pennsylvania, Philadelphia
  • 2Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland
JAMA Ophthalmol. 2014;132(10):1252-1255. doi:10.1001/jamaophthalmol.2014.2059

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

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