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

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, genitour...

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Bibliographic Details
Published in:Arquivos brasileiros de oftalmologia 2019-07, Vol.82 (4), p.336-338
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: Article
Language:English
Subjects:
Aniridia - diagnosis
Aniridia - genetics
Cataract - diagnosis
Cataract - genetics
Child
Chromosome Deletion
Chromosomes, Human, Pair 11 - genetics
Humans
Karyotype
Lens Subluxation - diagnosis
Lens Subluxation - genetics
Male
Obesity - diagnosis
Obesity - genetics
OPHTHALMOLOGY
WAGR Syndrome - diagnosis
WAGR Syndrome - genetics
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Summary: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.
ISSN:0004-2749
1678-2925
1678-2925
DOI:10.5935/0004-2749.20190065