Muñoz Cardona Marta Lucía, López Mahecha Jorge Mario
Department of Neuro-ophthalmology, Universidad de Antioquia, Medellín, Colombia.
Department of Ophthalmology, Universidad de Antioquia, Medellín, Colombia.
Neuroophthalmology. 2021 Oct 13;46(3):186-189. doi: 10.1080/01658107.2021.1982991. eCollection 2022.
A 10-year-old girl presented with left-eye esotropia and fixed mydriasis. Previously, she had been diagnosed with cerebellar ataxia and mild intellectual disability. Her parents were healthy. She was found to have partial aniridia of the pupillary sphincter bilaterally. A next-generation sequencing test for the inositol 1,4,5-trisphosphate type 1 receptor (ITPR1) gene was performed, revealing a previously unreported homozygous variant of uncertain significance at c.7610. Computational (In Silico) predictive models predicted this variant to be disease causing. With the arrival of DNA sequencing, aniridia can be genetically classified. In this case report, we present a patient with phenotypic features of Gillespie's syndrome with a homozygous variant in the ITPR1 gene that has not previously been reported.
一名10岁女孩出现左眼内斜视和瞳孔固定性散大。此前，她被诊断患有小脑共济失调和轻度智力障碍。她的父母身体健康。经检查发现她双侧瞳孔括约肌存在部分无虹膜症。对肌醇1,4,5-三磷酸受体1型（ITPR1）基因进行了下一代测序检测，结果显示在c.7610处有一个先前未报道的意义不确定的纯合变异。计算机（电子）预测模型预测该变异具有致病作用。随着DNA测序技术的出现，无虹膜症可以进行基因分类。在本病例报告中，我们介绍了一名具有吉莱斯皮综合征表型特征且ITPR1基因存在先前未报道的纯合变异的患者。
