Abstract:Purpose
To report on a patient with Stargardt disease (STGD1) and with an intronic mutation in the
ABCA4
gene.
Patients and Methods
A 69-year-old female patient presented to the clinic complaining of progressive vision loss. The ophthalmic evaluation was remarkable for a best corrected visual acuity of counting fingers at 5’ in the right eye and 3’ in the left eye. Imaging revealed deep extensive atrophy of the central macula, epithelial pigme… Show more
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