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- Title
Axenfeld‐Rieger syndrome.
- Authors
Seifi, M.; Walter, M. A.
- Abstract
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 <italic>PITX2</italic> or <italic>FOXC1</italic>. 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.
- Subjects
AXENFELD-Rieger syndrome; CHROMOSOME abnormalities
- Publication
Clinical Genetics, 2018, Vol 93, Issue 6, p1123
- ISSN
0009-9163
- Publication type
Letter to the Editor
- DOI
10.1111/cge.13148