A Case Report of a Family Suffering From Axenfeld Rieger’s Syndrome

Abstract

Axenfeld -Rieger syndrome is an autosomal dominant disorder affecting the anterior segment of the eye. The incidence of glaucoma is high and it is the main cause of blindness in Axenfeld -Rieger syndrome. Three chromosomal loci have been demonstrated to link to Axenfeld Rieger syndrome and related phenotypes. These loci are on chromosomes 4q25, 6p25, 13q14 and very recently chromosome 11. The genes at chromosomes 4q25 and 6p25 have been identified as PITX2 and FOXC1. These genes specify migration and differentiation of mesenchymal progenital cells of neural crest origin into distinct anterior segment tissues. We present to you a case which came to our out-patient department with complaints of diminution of vision which on further investigation leads us to a family suffering from this disease from five generations. All the patients gave history of having diminution of vision since birth and demonstrated common picture of photophobia, iris adhesion, iris holes, prominent Schwalbe's line, increased intraocular tension and glaucomatous changes on the disc on fundus examination. The case report emphasizes the grave importance of long-term follow and counseling, as the symptoms may only be a part manifestation of a potentially blinding syndrome.