March 2012
Volume 53, Issue 14
ARVO Annual Meeting Abstract  |   March 2012
Peripheral Color and Fundus Autofluorescence Imaging in Patients with Stargardt Disease and Fundus Flavimaculatus
Author Affiliations & Notes
  • Wadih M. Zein
    Ophthalmic Genetics & Visual Function Branch, NEI/NIH, Bethesda, Maryland
  • Brian P. Brooks
    Ophthalmic Genetics & Visual Function Branch, NEI/NIH, Bethesda, Maryland
  • Footnotes
    Commercial Relationships  Wadih M. Zein, None; Brian P. Brooks, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science March 2012, Vol.53, 2068. doi:
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      Wadih M. Zein, Brian P. Brooks; Peripheral Color and Fundus Autofluorescence Imaging in Patients with Stargardt Disease and Fundus Flavimaculatus. Invest. Ophthalmol. Vis. Sci. 2012;53(14):2068.

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      © ARVO (1962-2015); The Authors (2016-present)

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Stargardt disease (STGD) has traditionally been thought of as a juvenile maculopathy with imaging hallmarks of macular / perimacular flecks, beaten-metal macular atrophy, and a dark choroid on fluorescein angiography. Fundus flavimaculatus (FF) was initially described as a separate entity with more extensive flecks extending beyond the macular area but was later recognized as a manifestation of the same disease.Mutations in the ABCA4 gene were associated with both. Recently, fundus autofluorescence (AF) has been used extensively to study STGD / FF. Most reported imaging is limited to the central 50 degrees of the retina.


45 patients with a clinical diagnosis of STGD / FF were examined by one ophthalmologist (WZ) between August 2010 and November 2011. Datapoints included demographics with an estimated age-of-onset, psychophysical measurements including visual acuity and visual field, photopic electroretinography, and fundus color and AF imaging. Genetic testing for ABCA4 gene mutations was undertaken in all but one patient (refused). We report on the imaging data that included 3-field static color and AF (Topcon) in 25 patients and central color and AF in addition to ultra-wide-field imaging (Optos) in 18 patients.


17 patients (38%) had central lesions only with no changes beyond the arcades on exam; peripheral AF was normal in these patients. 12 patients (27%) had foveal sparing with relatively well-preserved central acuity in at least one eye. 33 patients (73%) had evident flecks; 38 patients (84%) had peripapillary sparing. Flecks beyond the arcades were noted in 28 patients; nine of these had a peculiar peripheral AF pattern of speckled hypofluorescence. Six of the patients with speckled AF also had a peripheral pattern of gyrate- like hypofluorescence that was not evident on color imaging. These tended to be the patients with longest disease period and most abnormal photopic electroretinography changes. Five patients (11%) had small deep lacunar lesions very close to the arcades - a finding that, to our knowledge, has not been described before.


We report on fundus color and AF patterns in patients with STGD / FF with a focus on peripheral imaging. The data has implications on the presumed target areas for future treatment trials and would also help with better phenotyping.

Keywords: imaging/image analysis: clinical • retinal degenerations: hereditary • clinical (human) or epidemiologic studies: natural history 

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