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Tobias Duncker, Tomas Burke, Jonathan Greenberg, Winston Lee, Theodore Smith, Stephen Tsang, Janet Sparrow, Rando Allikmets, Francois Delori; Quantitative measurements of autofluorescence in Stargardt’s disease. Invest. Ophthalmol. Vis. Sci. 2013;54(15):2830.
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© ARVO (1962-2015); The Authors (2016-present)
To obtain quantitative measurements of autofluorescence (qAF) in a cohort of patients with Stargardt’s disease (STGD1).
45 patients with a clinical diagnosis of STGD1 and a mean age of 29 years (range: 7-52 years) were studied. AF images were acquired with a confocal scanning laser ophthalmoscope (cSLO) equipped with an internal fluorescent reference to account for variable laser power and detector sensitivity. The gray levels (GLs) of each image were calibrated to the reference, the zero GL, and the magnification, to give quantified autofluorescence (qAF). For each patient, the mean qAF was based on values obtained from 8 circularly arranged segments positioned at an eccentricity of about 7°- 9° (depending on the refractive error). Genotyping of the ABCA4 gene was performed in all patients using the ABCR 700 microarray and direct sequencing.
qAF levels were significantly increased in 40/45 patients. Differences were more pronounced in younger patients with up to 5 times higher levels than normal controls. Patients carrying the G1916E mutation exhibited less pronounced increases in qAF levels. From the 5 patients without significantly increased qAF levels, 4 carried the G1961E mutation.
qAF is a novel imaging technique that allows in vivo measurements of lipofuscin. ABCA4 mutations cause significantly increased qAF levels, consistent with previous reports of increased RPE lipofuscin. qAF will help to establish genotype-phenotype correlations and serve as an outcome measure in clinical trials.
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