Clinical features and genetic variations of Axenfeld-Rieger syndrome

Authors: Wang Qi,  Shao Zhengbo,  Yuan Huiping
DOI: 10.3760/cma.j.cn115989-20200301-00127
Published 2023-09-10
Cite as Chin J Exp Ophthalmol, 2023, 41(9): 920-924.

Abstract                            Download PDF】 【Read Full Text

Axenfeld-Rieger syndrome is a rare autosomal dominant hereditary disease characterized by anterior segment dysgenesis, which may be accompanied by various systemic defects, including craniofacial dysmorphism, hypodontia, microdontia, and redundant periumbilical skin.Its typical ocular manifestations include posterior embryotoxon, iris hypoplasia, peripheral anterior synechiae, corectopia and polycoria with a high prevalence of glaucoma.Patients can exhibit any combination of these features.However, family members with the same genotype may present different phenotypes due to phenotypic heterogeneity.Emerging evidence suggests that PITX2 and FOXC1 genes encoding transcription factors are primarily associated with genetic variants in ARS.Intragenic mutations and gene deletions are common types of genetic variations suspected to trigger changes in gene dosages and protein function.However, the underlying molecular mechanism remains unclear.Some patients with ARS carry mutations in the COL4A1PRDM5, and CYP1B1 genes, but the pathogenicity of these variations has yet to be confirmed by further studies.This article provided an overview of the typical clinical features, potential correlations between phenotype and genotype, as well as gene function.

Key words:

Axenfeld-Rieger syndrome; Clinical features; Genes; Genetic variation
Contributor Information
Wang Qi

Department of Ophthalmology, the Second Affiliated Hospital of Harbin Medical University, The Key Laboratory of Myocardial Ischemia, Harbin Medical University, Ministry Education, Harbin 150086, China

Shao Zhengbo

Department of Ophthalmology, the Second Affiliated Hospital of Harbin Medical University, The Key Laboratory of Myocardial Ischemia, Harbin Medical University, Ministry Education, Harbin 150086, China

Yuan Huiping

Department of Ophthalmology, the Second Affiliated Hospital of Harbin Medical University, The Key Laboratory of Myocardial Ischemia, Harbin Medical University, Ministry Education, Harbin 150086, China

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