Article
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 - 1 Dec 2023
Devaraj Athira, Shetty Shashikant, Patnaik Nisheeta, Parida Haemoglobin, Pandurangan Sneha
Abstract excerpt
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...
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