1. Genotypic and Phenotypic Spectrum of Foveal Hypoplasia

    Genotypic and Phenotypic Spectrum of Foveal Hypoplasia

    Purpose To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). Design Multicenter, observational study. Participants A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6 , SLC38A8 , FRMD7, AHR, or achromatopsia from 12 centers in 9 countries (n = 523) or extracted from publicly available datasets from previously reported literature (n = 384). Methods Individuals with a confirmed molecular diagnosis and availability of foveal OCT scans were identified from 12 centers or from the literature between January 2011 and March 2021. A genetic diagnosis was confirmed by sequence analysis. Grading of FH was derived from OCT scans. Main ...

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