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Arquivos Brasileiros de Oftalmologia

versão impressa ISSN 0004-2749versão On-line ISSN 1678-2925

Resumo

FERREIRA, Maria Angélica Tosi et al. WAGRO syndrome: a rare genetic condition associated with aniridia and additional ophthalmologic abnormalities. Arq. Bras. Oftalmol. [online]. 2019, vol.82, n.4, pp.336-338.  Epub 20-Maio-2019. ISSN 1678-2925.  http://dx.doi.org/10.5935/0004-2749.20190065.

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.

Palavras-chave : Aniridia; WAGR syndrome; PAX6 transcription factor; Cataract; Wilms tumor.

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