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Stargardt Disease

Description

67-year-old woman who comes for a check-up.

VA OD 20/100 OS 20/20.

In the fundus of both eyes, yellowish deposits (flecks) are observed in the posterior pole and in the area nasal to the optic disc. These deposits are more evident in autofluorescence, which also reveals foveal atrophy in the right eye. OCT shows atrophy of the outer retina at the foveal level in the right eye and a hyperreflective subfoveal deposit with preservation of the ELM and EZ in the left eye.

Comments

Stargardt disease is the most common macular dystrophy and is inherited in an autosomal recessive manner. Most cases are due to mutations in the ABCA4 gene, although there are other genes that cause the disease such as PROM-1 and ELOVL (the latter is transmitted in an autosomal dominant manner). It is characterized by yellowish deposits throughout the posterior pole (classically with preservation of the peripapillary area) and foveal atrophy, although in cases of adult-onset there may be no such foveal atrophy. Autofluorescence has proven to be the most useful imaging test in the follow-up of these patients.

Indication