Genetic analysis of participants with foveal hypoplasia

Le résumé fourni par la source

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 and genotyping using a panel of 33 genes related to foveal hypoplasia. RESULTS: Of the 19 participants, 2 (10%) exhibited heterozygous pathogenic variants in genes typically associated with albinism (TYR and OCA2). Eyes from participants with variants had statistically significant lower central macula thickness than those without. DISCUSSION: The study reveals some albinism-associated variants among participants with idiopathic foveal hypoplasia, suggesting a possible genetic basis for this condition in a subset of cases.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.