title: Axenfeld-Rieger syndrome: new perspectives.
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.
authors.affiliation: Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, 37203, USA. tachenchang@hotmail.com
authors.forename: Ta C
authors.initials: TC
authors.lastname: Chang
authors.forename: C Gail
authors.initials: CG
authors.lastname: Summers
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Schimmenti
authors.forename: Alana L
authors.initials: AL
authors.lastname: Grajewski
mesh_terms: D000869:Anterior Eye Segment / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000209:etiology*; D015785:Eye Diseases, Hereditary; D051858:Forkhead Transcription Factors / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D014157:Transcription Factors / Q000235:genetics; D000097577:Homeobox Protein PITX2
chemical_list: D051858:Forkhead Transcription Factors; D018398:Homeodomain Proteins; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C112743:FOXC1 protein, human