Advances in Imaging of Stargardt Disease
Stargardt disease (STGD1) is an autosomal-recessively inherited condition often associated with mutations in ABCA4 and characterized by accumulation of autofluorescent lipofuscin deposits in the retinal pigment epithelium (RPE). Non-invasive imaging techniques including fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) and adaptive optics scanning laser ophthalmoscopy (AOSLO) have the potential to improve understanding of vision loss in patients with STGD. We describe a comprehensive approach to the study of patients with STGD. Measures of retinal structure and FAF were correlated with visual function including best-corrected visual acuity (BCVA), color vision, kinetic and static perimetry, fundus-guided microperimetry and full-field and multifocal electroretinography. Mutation analysis of the ABCA4 gene was carried out by sequencing the complete coding region. Preliminary data suggest that a combination of imaging modalities may provide a sensitive measure of disease progression and response to experimental therapies in patients with STGD.
Supported by a Career Development Award, Physician Scientist Award and Unrestricted Grant from Research to Prevent Blindness (JLD); a Career Development Award and Clinical Center Grant from the Foundation Fighting Blindness (JLD, AR); NIH-NEI grants EY00415, EY002162 (JLD), EY014375 (AR); That Man May See, Inc. (JLD); The Bernard A. Newcomb Macular Degeneration Fund (JLD); Hope for Vision (JLD); and the Karl Kirchgessner Foundation (JLD).
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