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Prospective cohort study of childhood-onset Stargardt disease: Fundus autofluorescence imaging, progression, comparison with adulthood-onset disease, and disease symmetry

American Journal of Ophthalmology Dec 16, 2019

Georgiou M, Kane T, Tanna P, et al. - In children and adults with molecularly confirmed Stargardt disease (STGD1), researchers discovered the authenticity and repeatability of quantitative evaluation of areas of decreased autofluorescence (DAF) from fundus autofluorescence (FAF) images and track disease progression, as well as examined clinical and genotype correlations, disease symmetry and intra-familial variability. For this prospective cohort study, patients (n = 90) had longitudinal FAF imaging with subsequent semi-automated measurement of the area of DAF and calculation of the annual rate of progression. In a cohort of molecularly confirmed children with STGD1, this is the first prospective study characterizing FAF. Quantification of the DAF area has been highly reliable and can thus serve as a robust structural end-point. For childhood-onset disease, a high rate of progression was found, making this subtype of STGD1 ideally suited for clinical trial prioritization. Limited intrafamilial variability has been noted.
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