Axenfeld-Rieger syndrome

Clin Genet. 2018 Jun;93(6):1123-1130. doi: 10.1111/cge.13148. Epub 2018 Jan 25.


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.

Keywords: Axenfeld-Rieger syndrome; diagnosis; glaucoma; treatment.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Anterior Eye Segment / abnormalities*
  • Anterior Eye Segment / pathology
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / epidemiology
  • Eye Abnormalities / genetics
  • Eye Abnormalities / pathology*
  • Eye Diseases, Hereditary / diagnosis
  • Eye Diseases, Hereditary / epidemiology
  • Eye Diseases, Hereditary / genetics
  • Eye Diseases, Hereditary / pathology*
  • Genetic Association Studies*
  • Genetic Counseling
  • Genetic Predisposition to Disease*
  • Humans

Supplementary concepts

  • Axenfeld-Rieger syndrome

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