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Abstract #5931 Published in IGR 2-2
Axenfeld-Rieger syndrome in the age of molecular genetics
Alward WLMAmerican Journal of Ophthalmology 2000; 130: 107-115
PURPOSE: To review of 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 phenotypes. These loci are on chromosomes 4q25, 6p25, and 13q14. The genes at chromosomes 4q25 and 6p25 have been identified as PITX2 and FKHL7, respectively. Mutations in these genes can cause a wide variety of phenotypes that share features with Axenfeld-Rieger syndrome. Axenfeld anomaly, Rieger anomaly, Rieger syndrome, iridogoniodysgenesis anomaly, iridogoniodysgenesis syndrome, iris hypoplasia, and familial glaucoma iridogoniodysplasia all have sufficient genotypic and phenotypic overlap that they should be considered one condition. CONCLUSIONS: Axenfeld-Rieger syndrome is a term that can be used to describe a variety of overlapping phenotypes. to date, at least three known genetic loci can cause these disorders. The single most important feature of these phenotypes is that they confer a 50% or greater risk of developing glaucoma. Currently there is a fairly arbitrary grouping of disorders into small categories. Considering all these phenotypes under the heading of Axenfeld-Rieger syndrome will allow easier communication between clinicians and scientists, and will eliminate arbitrary and confusing subclassification.
Dr. W.L.M. Alward, Department of Ophthalmology, University of Iowa College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA. wallace-alward@uiowa.edu
Classification:
1.2 Population genetics (Part of: 1 General aspects)
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
