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Abstract：
Axenfeld-Rieger syndrome is characterized by a spectrum of anterior segment dysgenesis involving neural-crest-derived tissues, most commonly secondary to mutations in the transcription factor genes PITX2 and FOXC1.
Single retrospective case report.
A full-term infant presented at 5 weeks of age with bilateral Peters anomaly and Axenfeld-Rieger syndrome, with development of atypical features of progressive corneal neovascularization and proliferative vitreoretinopathy. Despite surgical interventions, the patient progressed to bilateral phthisis bulbi by 22 months of age. Genetic testing revealed a novel de novo p.Leu212Valfs*39 mutation in PITX2, leading to loss of a C-terminal OAR domain that functions in transcriptional regulation.
It is important to consider mutations in PITX2 in atypical cases of anterior segment dysgenesis that also present with abnormalities in the angiogenesis of the anterior and posterior segments.
Single retrospective case report.
A full-term infant presented at 5 weeks of age with bilateral Peters anomaly and Axenfeld-Rieger syndrome, with development of atypical features of progressive corneal neovascularization and proliferative vitreoretinopathy. Despite surgical interventions, the patient progressed to bilateral phthisis bulbi by 22 months of age. Genetic testing revealed a novel de novo p.Leu212Valfs*39 mutation in PITX2, leading to loss of a C-terminal OAR domain that functions in transcriptional regulation.
It is important to consider mutations in PITX2 in atypical cases of anterior segment dysgenesis that also present with abnormalities in the angiogenesis of the anterior and posterior segments.
摘要：
Axenfeld-Rieger综合征的特征是涉及神经峰衍生组织的前节发育不全。最常见的继发于转录因子基因PITX2和FOXC1的突变。
单例回顾性病例报告。
一名足月婴儿在5周龄时出现双侧Peters异常和Axenfeld-Rieger综合征，伴有进行性角膜新生血管形成和增生性玻璃体视网膜病变的非典型特征。尽管有手术干预,患者在22月龄时进展为双侧肺结核.遗传检测揭示了PITX2中的一种新的从头p.Leu212Valfs*39突变，导致在转录调节中起作用的C末端OAR结构域丢失。
在前段发育不全的非典型病例中考虑PITX2的突变是重要的，这些病例也存在前段和后段血管生成的异常。
单例回顾性病例报告。
一名足月婴儿在5周龄时出现双侧Peters异常和Axenfeld-Rieger综合征，伴有进行性角膜新生血管形成和增生性玻璃体视网膜病变的非典型特征。尽管有手术干预,患者在22月龄时进展为双侧肺结核.遗传检测揭示了PITX2中的一种新的从头p.Leu212Valfs*39突变，导致在转录调节中起作用的C末端OAR结构域丢失。
在前段发育不全的非典型病例中考虑PITX2的突变是重要的，这些病例也存在前段和后段血管生成的异常。
