Retinal Degenerative Diseases

Volume 664 of the series Advances in Experimental Medicine and Biology pp 333-340


Advances in Imaging of Stargardt Disease

  • Y. ChenAffiliated withFaculty of Medicine, University of Toronto
  • , A. RoordaAffiliated withSchool of Optometry, University of California
  • , J.L. DuncanAffiliated withDepartment of Ophthalmology, University of California Email author 

* Final gross prices may vary according to local VAT.

Get Access


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.