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Adv Exp Med Biol. 2010;664:333-40. doi: 10.1007/978-1-4419-1399-9_38.

Advances in imaging of Stargardt disease.

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1
Faculty of Medicine, University of Toronto, Toronto, ON, Canada.

Abstract

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.

PMID:
20238033
PMCID:
PMC4862575
DOI:
10.1007/978-1-4419-1399-9_38
[Indexed for MEDLINE]
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