Axenfeld-Rieger syndrome: New perspectives

Ta C. Chang, C. Gail Summers, Lisa A. Schimmenti, Alana L. Grajewski

Research output: Contribution to journalReview article

44 Scopus citations

Abstract

Axenfeld-Rieger syndrome is a genetic disease affecting multiple organ systems. In the eye, this condition manifests with varying degrees of anterior segment dysgenesis and carries a high risk of glaucoma. Other associated systemic issues include cardiovascular outflow tract malformations, craniofacial abnormalities and pituitary abnormalities, which can result in severe endocrinological sequelae. Recent advances in molecular genetics have identified two major genes, PITX2 and FOXC1, demonstrating a wide spectrum of mutations, which aids in the molecular diagnosis of the disease, although evidence exists to implicate other loci in this condition. The management of individuals affected by Axenfeld-Rieger syndrome requires a multidisciplinary approach and would include dedicated surveillance and management of glaucoma, sensorineural hearing loss, and cardiac, endocrinological, craniofacial and orthopaedic abnormalities.

Original languageEnglish (US)
Pages (from-to)318-322
Number of pages5
JournalBritish Journal of Ophthalmology
Volume96
Issue number3
DOIs
StatePublished - Mar 1 2012

Keywords

  • Anterior segment dysgenesis
  • Axenfeld
  • Rieger

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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