Aniridia: Recent achievements in paediatric practice

Ivan Ivanov, Avinoam Shuper, Mordechai Shohat, Moshe Snir, Raphael Weitz

Research output: Contribution to journalReview articlepeer-review

Abstract

Aniridia is a rare panocular disorder which primarily involves not only the iris, but also the retina, optic nerve, lens and cornea. Visual acuity deteriorates as a result of nystagmus, glaucoma, cataract, corneal opacities and retinal hypoplasia. Aniridia may appear as an isolated disorder, most often familial with autosomal dominance or sporadically in association with at least 12 syndromes. Both familial isolated and Wilms tumour, bilateral sporadic aniridia, genitourinary abnormalities and mental retardation syndrome-associated aniridia have been traced to a mutation of the PAX6 gene on band 11p13. Since genetic diagnosis of this disorder is already possible, counselling affected families should be preceded by karyotype studies and linkage analysis in familial cases of isolated aniridia. In sporadic cases of isolated aniridia or WAGR syndrome, we suggest that PAX6 mutation analysis be employed.

Original languageEnglish
Pages (from-to)795-800
Number of pages6
JournalEuropean Journal of Pediatrics
Volume154
Issue number10
DOIs
StatePublished - Oct 1995
Externally publishedYes

Keywords

  • Aniridia syndromes
  • Genetic counselling
  • PAX6 gene
  • WAGR syndrome

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