Axenfeld-Rieger syndrome in the age of molecular genetics.

  title={Axenfeld-Rieger syndrome in the age of molecular genetics.},
  author={W. L. Alward},
  journal={American journal of ophthalmology},
  volume={130 1},
  • W. L. Alward
  • Published 2000
  • Biology, Medicine
  • American journal of ophthalmology
  • PURPOSE To review the molecular genetics of Axenfeld-Rieger syndrome and related phenotypes and to discuss how this information might affect the way that we classify these disorders. METHODS A review of historical and recent literature on Axenfeld-Rieger syndrome and related disorders. The review includes clinical and molecular genetic literature relevant to these phenotypes. RESULTS Three chromosomal loci have recently been demonstrated to link to Axenfeld-Rieger syndrome and related… CONTINUE READING
    211 Citations
    Genetic Analysis of PITX2 and FOXC1 in Rieger Syndrome Patients From Brazil
    • 40
    • Highly Influenced
    A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
    • 7
    • PDF
    Axenfeld-Rieger Syndrome
    Screening for Mutations of Axenfeld-Rieger Syndrome Caused by FOXC1 Gene in Japanese Patients
    • 22
    Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome
    • 8
    • PDF
    Current molecular understanding of Axenfeld-Rieger syndrome.
    • 85
    • PDF
    Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
    • 27
    • PDF
    Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.
    • 62
    • PDF


    Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).
    • 60
    Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.
    • 306
    Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome.
    • M. B. Shields
    • Biology, Medicine
    • Transactions of the American Ophthalmological Society
    • 1983
    • 151
    Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.
    • 126
    A second locus for Rieger syndrome maps to chromosome 13q14.
    • 179