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Abstract：
Gillespie syndrome, a genetically inherited condition, is described as a disease that primarily affects the ocular and associated nervous systems. It is characterized by a clinical triad of bilateral aniridia, intellectual disability, and cerebellar ataxia, and is inherited in an autosomal dominant or recessive fashion. The most well-studied mutations related to this syndrome affect the inositol 1,4,5-trisphosphate receptor type 1 gene (ITPR1). Gillespie syndrome is an exceptionally uncommon diagnosis with less than 50 patients ever being diagnosed. We present a case of a patient with bilateral aniridia and ataxia but lacking intellectual disability, and moreover had no known family history of this syndrome. Our case report shows that Gillespie syndrome may not necessarily present with the classic \"triad\" of symptoms as previously described in the literature.
摘要：
Gillespie综合征,遗传条件，被描述为主要影响眼部和相关神经系统的疾病。它的特征是双侧无虹膜的临床三联征，智力残疾,和小脑共济失调,并且以常染色体显性或隐性方式遗传。与该综合征相关的研究最充分的突变会影响肌醇1,4,5-三磷酸受体1型基因（ITPR1）。Gillespie综合征是一种非常罕见的诊断，只有不到50名患者被诊断出来。我们介绍了一例双侧无虹膜和共济失调但缺乏智力残疾的患者，而且没有已知的这种综合征的家族史。我们的病例报告显示，Gillespie综合征可能不一定存在文献中先前描述的经典症状“三联征”。
