Article

Functional Characteristics of Diverse PAX6 Mutations Associated With Isolated Foveal Hypoplasia

2023-06-26

Abstract excerpt

Autosomal dominant isolated foveal hypoplasia (FVH1) is a rare condition of foveal hypoplasia (FH) that lacks any other ocular manifestations. FVH1 is associated with hypomorphic mutations in the PAX6 gene. We report our findings in 17 patients with PAX6 mutations associated with FVH1 or FH with aniridia and corneal opacities. Patients with three mutations, p.V78E, p.V83F and p.R128H, in the C-terminal subdomain o...

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Literature Corpus work: 33948ddf-8ba2-5152-9e0c-9b752b5599b6
DOI: 10.20944/preprints202306.1772.v1

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