Axenfeld‐Rieger syndrome

Axenfeld‐Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the anterior segment of the eye, often leading to secondary glaucoma. Patients with ARS may also present with systemic changes, including dental defects, mild craniofacia...

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Bibliographic Details
Published in:Clinical genetics 2018-06, Vol.93 (6), p.1123-1130
Main Authors: Seifi, M., Walter, M.A.
Format: Article
Language:English
Subjects:
Axenfeld‐Rieger syndrome
Craniofacial syndromes
Developmental disabilities
diagnosis
Genetic counseling
Glaucoma
Mutation
treatment
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Summary:Axenfeld‐Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the anterior segment of the eye, often leading to secondary glaucoma. Patients with ARS may also present with systemic changes, including dental defects, mild craniofacial dysmorphism, and umbilical anomalies. ARS is inherited in an autosomal‐dominant fashion; the underlying defect in 40% of patients is mutations in PITX2 or FOXC1. Here, an overview of the clinical spectrum of ARS is provided. As well, the known underlying genetic defects, clinical diagnostic possibilities, genetic counseling and treatments of ARS are discussed in detail.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13148