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

MAT Ferreira, IG Almeida, DK Kuratani… - Arquivos Brasileiros …, 2019 - SciELO Brasil
MAT Ferreira, IG Almeida, DK Kuratani, RFM Rosa, JFO Gonzales, LEB Telles, YA Ferrão
Arquivos Brasileiros de Oftalmologia, 2019SciELO Brasil
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 …
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.
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