Clinical and Molecular Analysis of Stargardt Disease With Preserved Foveal Structure and Function

Purpose: To describe a cohort of patients with Stargardt disease who show a foveal-sparing phenotype.Design: Retrospective case series.Methods: The foveal-sparing phenotype was defined as foveal preservation on autofluorescence imaging, despite a retinopathy otherwise consistent with Stargardt disease. Forty such individuals were ascertained and a full ophthalmic examination was undertaken. Following mutation screening of ABCA4, the molecular findings were compared with those of patients with Stargardt disease but no foveal sparing.Results: The median age of onset and age at examination of 40 patients with the foveal-sparing phenotype were 43.5 and 46.5 years. The median logMAR visual acuity was 0.18. Twenty-two patients (Read more...)

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