Stargardt disease

Definition:

Stargardt disease (STGD) is the most common type of hereditary macular dystrophy. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium (RPE), and frequent presence of prominent flecks in the posterior pole of the retina. Histopathologically, eyes with STGD reveal abnormal accumulations of lipofuscin in the RPE. To date, mutations in four genes have been identified as causing STGD, including ABCA4, ELOVL4, PROM1, and CNGB3.

References:

[1]. Michel Michaelides, et al. The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4771-80. [Content Brief]

[2]. Robert K Koenekoop, et al. The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review. Ophthalmic Genet. 2003 Jun;24(2):75-80. [Content Brief]

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