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Pattern Dystrophy – Multifocal Pattern

Description

A 65-year-old male comes in for a check-up.

VA OD 20/20 OS 20/20.

In the fundus examination, multiple small yellowish lesions are observed scattered throughout the macular area and around the optic disc. These lesions are hyperautofluorescent, suggesting they are vitelliform material, although there are also hypoautofluorescent areas due to RPE damage. On OCT, the lesions correspond to hyperreflective subretinal material, with some showing disruption of the ellipsoid zone (EZ). The appearance of the lesions, the high symmetry between both eyes, and the good visual acuity allow for the diagnosis of pattern dystrophy with a multifocal pattern mimicking Stargardt disease.

Comments

Pattern dystrophies are a group of entities caused by alterations in the PRPH2/RDS gene. They consist of the accumulation of lipofuscin in the RPE in different patterns. In the case of the multifocal pattern, the differential diagnosis should be made with Stargardt disease. In the latter, visual acuity is usually poor and there is preservation of the peripapillary area.

Indication