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Genotype-Specific Lesion Growth Rates in Stargardt Disease.

Genes - 14 Dec 2021

Heath Jeffery Rachael C, Thompson Jennifer A, Lo Johnny, Lamey Tina M, McLaren Terri L, McAllister Ian L, Constable Ian J, De Roach John N, Chen Fred K

Abstract excerpt

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 biallelic 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 segmented for boundaries of definitely decreased...

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PMID: 34946930
DOI: 10.3390/genes12121981
PMCID: PMC8701386

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