Axenfeld-Rieger syndrome in monozygotic twins

J Glaucoma. 2011 Dec;20(9):584-6. doi: 10.1097/IJG.0b013e3181f7b258.

Abstract

Two teenaged monozygotic twin sisters with Axenfeld-Rieger syndrome (ARS) were referred to our center for uncontrolled glaucoma from the local hospital in December 2006. At presentation, typical components of ARS could be found in both patients, including iris anomaly, maxillary hypoplasia, hypodontia, and umbilical skin fold. Both sisters received trabeculectomy in both the eyes later in our center. Intraocular pressure was well controlled in both the eyes in both patients 1 year after the surgeries. No mutations were found by direct sequencing of PITX2 and FOXC1 genes, in the twin sisters. As far as we know, no earlier report has described monozygotic twins with ARS in the international literature.

Publication types

  • Case Reports

MeSH terms

  • Anterior Eye Segment / abnormalities
  • Diseases in Twins / genetics*
  • Eye Abnormalities / genetics*
  • Eye Diseases, Hereditary
  • Female
  • Forkhead Transcription Factors / genetics
  • Glaucoma / genetics*
  • Glaucoma / surgery
  • Homeobox Protein PITX2
  • Homeodomain Proteins / genetics
  • Humans
  • Intraocular Pressure
  • Trabeculectomy
  • Transcription Factors / genetics
  • Twins, Monozygotic / genetics*

Substances

  • FOXC1 protein, human
  • Forkhead Transcription Factors
  • Homeodomain Proteins
  • Transcription Factors

Supplementary concepts

  • Axenfeld-Rieger syndrome