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Genotypic and Phenotypic Spectrum of Foveal Hypoplasia

11 Feb 2022

Abstract excerpt

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:...

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PMID: 35157951
DOI: 10.1016/j.ophtha.2022.02.010

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