眼外肌发育不良伴 Axenfeld-Rieger 综合征。
Extraocular muscle hypoplasia associated with Axenfeld-Rieger syndrome.
机构信息
Department of Ophthalmology, University Hospitals Leuven, Leuven.
Center for Human Genetics, University Hospitals Leuven, Leuven.
出版信息
Strabismus. 2021 Dec;29(4):216-220. doi: 10.1080/09273972.2021.1987926. Epub 2021 Oct 28.
We describe a four-year-old girl with bilateral severe iris hypoplasia and secondary ocular hypertension. Genetic testing revealed a de novo deletion in the FOXC1 gene, establishing the diagnosis of Axenfeld-Rieger syndrome (ARS). The girl developed a gradually increasing exotropia, up to 95 prism diopters by the age of 3 years wherefore strabismus surgery was performed. Intra-operatively, only very rudimentary developed medial and lateral rectus muscles were found. This is the first observation of pronounced hypoplasia of both medial and lateral rectus muscles associated with ARS.
我们描述了一例四岁女孩双侧严重虹膜发育不良和继发性眼高压。基因检测显示 FOXC1 基因存在新生缺失，确立 Axenfeld-Rieger 综合征（ARS）的诊断。该女孩逐渐出现外斜视，3 岁时达到 95 棱镜度，因此行斜视手术。术中仅发现非常原始的内侧和外侧直肌。这是首例与 ARS 相关的内侧和外侧直肌明显发育不良的观察结果。
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