ANIRIDIA - RECENT ACHIEVEMENTS IN PEDIATRIC PRACTICE

Aniridia is a rare panocular disorder which primarily involves not onl y the iris, but also the retina, optic nerve, lens and cornea. Visual acuity deteriorates as a result of nystagmus, glaucoma, cataract, corn eal opacities and retinal hypoplasia. Aniridia may appear as an isolat ed disorder, most often familial with autosomal dominance or sporadica lly in association with at least 12 syndromes. Both familial isolated and Wilms tumour, bilateral sporadic aniridia, genitourinary abnormali ties and mental retardation syndrome-associated aniridia have been tra ced to a mutation of the PAX6 gene on band 11p13. Since genetic diagno sis of this disorder is already possible, counselling affected familie s should be preceded by karyotype studies and linkage analysis in fami lial cases of isolated aniridia. In sporadic cases of isolated aniridi a or WAGR syndrome, we suggest that PAX6 mutation analysis be employed .