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Genotype-Specific Lesion Growth Rates In Stargardt Disease, Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Tina M. Lamey, Terri L. Mclaren, Ian L. Mcallister, Ian J. Constable, John N. De Roach, Fred K. Chen
Genotype-Specific Lesion Growth Rates In Stargardt Disease, Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Tina M. Lamey, Terri L. Mclaren, Ian L. Mcallister, Ian J. Constable, John N. De Roach, Fred K. Chen
Research outputs 2014 to 2021
Reported growth rates (GR) of atrophic lesions in Stargardt disease (STGD1) vary widely. In the present study, we report the longitudinal natural history of patients with confirmed bial-lelic ABCA4 mutations from five genotype groups: c.6079C > T, c.[2588G > C;5603A > T], c.3113C > T, c.5882G > A and c.5603A > T. Fundus autofluorescence (AF) 30◦ × 30◦ images were manually seg-mented for boundaries of definitely decreased autofluorescence (DDAF). The primary outcome was the effective radius GR across five genotype groups. The age of DDAF formation in each eye was calculated using the x-intercept of the DDAF effective radius against age. Discordance between age at DDAF …