Stargardt Disease

Le résumé fourni par la source

Abstract Autosomal recessive Stargardt disease and fundus flavimaculatus represent a single clinical entity caused by mutation of the ABCA4 gene and accumulation of defective gene product (A2E) at the level of the RPE. The autosomal dominant STGD3 phenotype results when a mutation in the ELOVL4 gene produces a truncated protein that fails to fulfill its normal role in fatty acid synthesis. Although the clinical phenotypes of ABCA4-related Stargardt disease and STGD3 vary widely, the majority of patients have progressively worsening visual acuity from less than 20/40 at diagnosis, yellowish “pisciform” fundus flecks, and a “silent choroid” angiographic sign. Adults with Stargardt disease may have a fundus appearance that can be confused with central areolar dystrophy or with advanced “inverse” RP. Clinical molecular testing is now available and has allowed more precise diagnosis. Ongoing studies involving transgenic mouse models and imminent clinical therapeutic studies hold promise for the development of treatment modalities such as targeted gene therapy and nutritional supplementation.

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