Abstract :
%PURPOE: To review the molecular genetic of Axenfeld-Rieger yndrome and related phenotype and to dicu how thi information might affect the way that we claify thee diorder.
METHOD: A review of hitorical and recent literature on Axenfeld-Rieger yndrome and related diorder. The review include clinical and molecular genetic literature relevant to thee phenotype.
REULT: Three chromoomal loci have recently been demontrated to link to Axenfeld-Rieger yndrome and related phenotype. Thee loci are on chromoome 4q25, 6p25, and 13q14. The gene at chromoome 4q25 and 6p25 have been identified a PITX2 and FKHL7, repectively. Mutation in thee gene can caue a wide variety of phenotype that hare feature with Axenfeld-Rieger yndrome. Axenfeld anomaly, Rieger anomaly, Rieger yndrome, iridogoniodygenei anomaly, iridogoniodygenei yndrome, iri hypoplaia, and familial glaucoma iridogoniodyplaia all have ufficient genotypic and phenotypic overlap that they hould be conidered one condition.
CONCLUION: Axenfeld-Rieger yndrome i a term that can be ued to decribe a variety of overlapping phenotype. To date, at leat three known genetic loci can caue thee diorder. The ingle mot important feature of thee phenotype i that they confer a 50% or greater rik of developing glaucoma. Currently there i a fairly arbitrary grouping of diorder into mall categorie. Conidering all of thee phenotype under the heading of Axenfeld-Rieger yndrome will allow eaier communication between clinician and cientit and eliminate arbitrary and confuing ubclaification.
