Axenfeld-Rieger syndrome.

Axenfeld-Rieger syndrome.
Clin Genet. 2017 Oct 03;:
Authors: Seifi M, Walter MA
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 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.
PMID: 28972279 [PubMed - as supplied by publisher]

Source: Clinical Genetics - October 3, 2017 Category: Genetics & Stem Cells Authors: Seifi M, Walter MA Tags: Clin Genet Source Type: research