Literature DB >> 30578500

Stargardt Disease.

Stephen H Tsang1,2, Tarun Sharma3.   

Abstract

Stargardt disease (STGD) is one of the most common macular dystrophies in young adults. It progresses slowly. Its prevalence is about 1:8000-10,000. Age of onset is a surrogate marker: The earlier the onset, the more severe the disease course. Onset usually occurs in childhood or early adolescence, at about 10-15 years of age. Vision is between about 20/70 and 20/200. The fundus shows a bull's eye pattern or beaten-bronze appearance, with or without yellowish flecks (fundus flavimaculatus). Fluorescein angiography may show dark choroid in about 80% of cases. On fundus autofluorescence (FAF), newer flecks appear hyperautofluorescent (hyperAF); older ones become progressively more hypoAF with time. Some flecks are surrounded by a ring of decreased AF. Peripapillary sparing is one the characteristics of Stargardt disease, but this area can be involved in about 2-7% of cases. The reason for this sparing is unclear; this area may be more resilient to the deleterious effect of ABCA4 gene mutation, and there might be a more favorable RPE photoreceptor ratio, resulting in less lipofuscin build-up, in the presence of a thicker overlying peripapillary retinal nerve fiber layer. Patients with Stargardt disease should avoid bright light and excessive vitamin A.

Entities:  

Keywords:  Autosomal recessive; Stargardt disease

Mesh:

Substances:

Year:  2018        PMID: 30578500     DOI: 10.1007/978-3-319-95046-4_27

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN: 0065-2598            Impact factor:   2.622


  9 in total

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4.  Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1.

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Review 8.  Gene-Based Therapeutics for Inherited Retinal Diseases.

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  9 in total

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