中央凹发育不全患者的遗传分析。

IF 1 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2025-06-23 DOI:10.1080/13816810.2025.2520411

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

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引用次数: 0

摘要

在没有家族性白化病病史的队列中，研究特发性中央凹发育不全的遗传基础并评估其与白化病相关基因变异的潜在重叠的数据很少。方法：这项横断面研究包括19名被诊断为特发性中央凹发育不全的参与者，通过光学相干断层扫描（OCT）证实。我们使用33个与中央窝发育不全相关的基因进行详细的眼科评估和基因分型。结果：在19名参与者中，2名（10%）在与白化病典型相关的基因（TYR和OCA2）中表现出杂合致病性变异。有变异的参与者的眼睛的中央黄斑厚度比没有变异的参与者的眼睛低，这在统计学上是显著的。讨论：该研究揭示了特发性中央凹发育不全患者中一些与白化病相关的变异，提示在一部分病例中可能存在这种情况的遗传基础。

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Genetic analysis of participants with foveal hypoplasia.

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.

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来源期刊

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.