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Article

Genetic analysis of participants with foveal hypoplasia.

Ophthalmic genetics - 1 Dec 2025

Lejoyeux Raphael, Michaud Vincent, Le Boité Hugo, Plaisant Claudio, Helot Isabelle, Philippe Elodie, Lasseaux Eulalie, Vasseur Vivien, Fessard Karine, Picard Hervé, Le Cossec Chloe, Bruneau Sebastien, Le Mer Yannick, Arveiler Benoit, Couturier Aude, Bonnin Sophie

Abstract excerpt

INTRODUCTION: There is few data that investigate the genetic underpinnings of idiopathic foveal hypoplasia and assess its potential overlap with albinism-related gene variants in a cohort devoid of familial albinism history. METHODS: This cross-sectional study included 19 participants diagnosed with idiopathic foveal hypoplasia, confirmed via optical coherence tomography (OCT). We detailed ophthalmic evaluations...

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Identifiers

PMID: 40546025
DOI: 10.1080/13816810.2025.2520411

Genes

OCA2
TYR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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