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.
KeywordsOptical Coherence Tomography Retinal Pigment Epithelium Retinal Pigment Epithelium Cell Spectral Domain Optical Coherence Tomography Central Foveal Thickness
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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