A Case of WAGR Syndrome with Petersʼ Anomaly

Background

WAGR syndrome (Wilmsʼ tumor, aniridia, genitourinary anomalies and mental retardation) is caused by the deletion of chromosome 11p13, including the Wilms tumor gene (WT1) and the PAX6 gene [1].

Petersʼ anomaly is an anterior segment dysgenesis with central corneal opacity (leukoma), variable degrees of iris adhesions and occasionally cataract [2].

Mutations of the PAX6 gene, known to result in aniridia in WAGR syndrome, are also found in different anterior segment malformations including Petersʼ anomaly [3].

We report of a case of a one year old boy, who has a genetically confirmed WAGR syndrome with partial aniridia and Petersʼ anomaly.

• References

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