Aniridia: recent achievements in paediatric practice.
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.
Ivanov
I
I
Department of Paediatric Neurology, Children's Medical Centre of Israel, Petah Tiqva, Israel.
Shuper
A
A
Shohat
M
M
Snir
M
M
Weitz
R
R
D015783:Aniridia / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D005136:Eye Proteins; D005799:Genes, Dominant / Q000235:genetics; D005817:Genetic Counseling; D018398:Homeodomain Proteins; D006801:Humans; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D012097:Repressor Proteins; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D014157:Transcription Factors