16.2

Stargardt Disease

Introduction:

Stargardt disease is the most common inherited macular dystrophy. It is associated with mutations in the ABCA4 gene and is mostly commonly inherited in an autosomal recessive fashion. The disease has a wide spectrum of severity that accounts for a highly varied presentation.

Clinical Features:

There are characteristic ‘pisciform’ flecks or yellowish deposits that can be in the shape of a fish tail at the level of the RPE. These deposits collect in the posterior pole, usually within the macula, but can be outside the arcades (Fig. 16.2.1). The peripapillary region is characteristically spared. Some cases show severe macular atrophy as the prominent feature.

Figure 16.2.1 Color photograph shows numerous pisciform flecks throughout the posterior pole. There are also retinal pigment epithelium abnormalities within the central macula.

OCT Features:

OCT confirms the RPE as the location of the abnormal deposits and shows associated outer retinal atrophy, which may be present parafoveally (Fig. 16.2.2) or involve the fovea (Fig. 16.2.3

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1. Central Serous Chorioretinopathy
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4. Choroidal Melanoma

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