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Article

Haploinsufficiency of PITX2 in Four Chinese Families With Axenfeld-Rieger Syndrome.

Journal of glaucoma - 1 Aug 2026

Liu Chumou, Zhou Zhou, Xu Li, Liu Guo, Liu Nanxin, Hu Li, Tan Junkai, Chen Zijie, Hommodova Mahri, Fan Ning, Hu Jiaoyue, Liu Xuyang

Abstract excerpt

PRCIS: Axenfeld-Rieger syndrome (ARS) is a rare genetic disorder characterized by anterior segment dysgenesis and secondary glaucoma, often accompanied by systemic defects. This study investigated the clinical and genetic features in 4 Chinese families with ARS. PURPOSE: To characterize the clinical phenotypes and identify the causative genetic mutations in 4 unrelated Chinese families with ARS. METHODS: Affected...

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Source

Identifiers

PMID: 42384866
DOI: 10.1097/IJG.0000000000002748

Genes

PITX2

Variants

Provenance

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

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