An uncommon presentation of WAGR syndrome with persistent fetal vasculature.

Aniridia is an autosomal dominant congenital malformation associated with mutations in the PAX6 gene. It can be associated with deletion in the contiguous WT1 gene, leading to WAGR syndrome, characterized by Wilm tumor, aniridia, genitourinary anomalies, and mental retardation. Persistent fetal vasculature is a developmental malformation caused by incomplete regression of hyaloid vasculature. Most cases of persistent fetal vasculature occur sporadically; however, some inherited forms are described. We report a case of genetically confirmed WAGR associated with congenital cataract and persistent fetal vasculature. Copyright © 2023 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Citation

Athira Devaraj, Shashikant Shetty, Nisheeta Patnaik, Haemoglobin Parida, Sneha Pandurangan. An uncommon presentation of WAGR syndrome with persistent fetal vasculature. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2023 Dec;27(6):357-359

Mesh Tags

PMID: 37742703

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