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.
Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
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Chen
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Roorda
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Duncan
D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis*; D003952:Diagnostic Imaging / Q000379:methods* / Q000639:trends*; D005453:Fluorescence; D005654:Fundus Oculi; D006801:Humans; D019721:Ophthalmoscopes; D041623:Tomography, Optical Coherence