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Article

Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia.

Genes - 21 Jul 2023

Matsushita Itsuka, Izumi Hiroto, Ueno Shinji, Hayashi Takaaki, Fujinami Kaoru, Tsunoda Kazushige, Iwata Takeshi, Kiuchi Yoshiaki, Kondo Hiroyuki

Abstract excerpt

The human fovea is a specialized pit structure in the central retina. Foveal hypoplasia is a condition where the foveal pit does not fully develop, and it is associated with poor vision. 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 that encodes a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37510387
DOI: 10.3390/genes14071483
PMCID: PMC10379490

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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