Aniridia: Recent Achievements in Paediatric Practice

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 1995 Oct 1

PMID 8529675

Citations 7

Authors

I Ivanov

A Shuper

M Shohat

M Snir

R Weitz

Affiliations

Soon will be listed here.

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.

Citing Articles

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A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus.

Qian T, Chen C, Li C, Gong Q, Liu K, Wang G BMC Ophthalmol. 2021; 21(1):353.

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Identification of a novel PAX6 mutation in a Chinese family with aniridia.

Qiu J, Zhang Q, Geng Z, Liu M, Zhong Z, Chen J BMC Ophthalmol. 2019; 19(1):10.

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Pineal hypoplasia, reduced melatonin and sleep disturbance in patients with PAX6 haploinsufficiency.

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