Congenital Cataract in a Triple X Syndrome Patient

Abstract

Purpose: To report a case of bilateral congenital cataract in a patient with triple X syndrome. Case summary: A 9-month-old female was referred to our clinic because of poor fixation and white pupils in both eyes. The patient underwent a performed chromosomal study in the pediatric department due to developmental delay and torticollis. As a result, she was diagnosed with triple X syndrome (47, XXX). Under general anesthesia, the patient underwent lens aspiration with intraocular lens insertion and anterior vitrectomy was performed followed by posterior capsulotomy with optic capture. Intraoperatively, remnant pupillary membrane, posterior embryotoxon, and anterior lenticonus with anterior capsular defect in both eyes were observed. But there was no specific finding on fundus examination. Conclusions: We report the first case of bilateral congenital cataract in a patient with triple X syndrome. It is recommended that clinicians check for cataracts as soon as possible when this chromosome abnormality is confirmed.