WAGRO syndrome: a rare genetic condition associated with aniridia and additional ophthalmologic abnormalities

ABSTRACT Aniridia is a congenital eye disorder with a variable degree of hypoplasia or absence of iris tissue. It is caused by loss of function of the PAX6 gene and may be an isolated ocular abnormality or part of a syndrome. WAGRO refers to a rare genetic condition leading to Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity and is caused by a deletion of the short arm of chromosome 11 (11p), where the PAX6 gene is located. Here, we report on an 8-year-old boy with aniridia, polar cataract, and lens subluxation along with neuropsychomotor and speech delays. Karyotype evaluation showed an interstitial deletion including region 11p13-p14, confirming the diagnosis of WAGRO syndrome. In cases of aniridia, a diagnosis of WAGRO syndrome should be considered.

Bibliographic Details

Main Authors:	Ferreira,Maria Angélica Tosi, Almeida Júnior,Ivan Gonçalves de, Kuratani,Daniel Kanami, Rosa,Rafael Fabiano Machado, Gonzales,João Francisco de Oliveira, Telles,Lisieux Elaine de Borba, Ferrão,Ygor Arzeno, Zen,Paulo Ricardo Gazzola
Format:	Digital revista
Language:	English
Published:	Conselho Brasileiro de Oftalmologia 2019
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492019000400336
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