Abstract：
BACKGROUND: Axenfeld-Rieger syndrome (ARS) is a rare kind of anterior segment dysgenesis (ASD). The most common ocular features of ARS are posterior embryotoxon and iris hypoplasia, while some patients may manifest as corneal opacity and edema. However, the current understanding of how ARS affects the cornea is still incomplete. This study reports a novel histopathological finding of ARS, complicating corneal abnormalities, including congenital corneal opacity and irreversible endothelial decompensation.
METHODS: This retrospective study included 6 eyes of 3 ARS patients, 5 of which underwent keratoplasty for irreversible endothelial decompensation from May 2016 to January 2019. No eye had a history of surgery. We reviewed the data of epidemiology, clinical manifestations and histopathologic examinations.
RESULTS: Five eyes developed irreversible endothelial decompensation, among which 4 were born with corneal opacity. One eye exhibited transparent cornea but showed a continuous loss of endothelial cells in the absence of surgery and elevated intraocular pressure thereafter. Anterior segment optical coherence tomography photographs showed that anterior synechia existed in the area with corneal opacities, where we found the interlayer splitting of the Descemet membrane inserted by hypoplastic iris and a basement membrane-like structure under a light microscope.
CONCLUSIONS: Anterior synechia might be associated with corneal abnormalities in ARS patients. The novel histopathologic finding revealed the internal relation between anterior segment dysgenesis and would help explore the inner mechanism of corneal abnormalities in ARS.
METHODS: This retrospective study included 6 eyes of 3 ARS patients, 5 of which underwent keratoplasty for irreversible endothelial decompensation from May 2016 to January 2019. No eye had a history of surgery. We reviewed the data of epidemiology, clinical manifestations and histopathologic examinations.
RESULTS: Five eyes developed irreversible endothelial decompensation, among which 4 were born with corneal opacity. One eye exhibited transparent cornea but showed a continuous loss of endothelial cells in the absence of surgery and elevated intraocular pressure thereafter. Anterior segment optical coherence tomography photographs showed that anterior synechia existed in the area with corneal opacities, where we found the interlayer splitting of the Descemet membrane inserted by hypoplastic iris and a basement membrane-like structure under a light microscope.
CONCLUSIONS: Anterior synechia might be associated with corneal abnormalities in ARS patients. The novel histopathologic finding revealed the internal relation between anterior segment dysgenesis and would help explore the inner mechanism of corneal abnormalities in ARS.
摘要：
背景：Axenfeld-Rieger综合征（ARS）是一种罕见的眼前节发育不全（ASD）。ARS最常见的眼部特征是后胚胎毒素和虹膜发育不全，而有些患者可能表现为角膜混浊和水肿。然而,目前对ARS如何影响角膜的理解仍然不完整。这项研究报告了ARS的一个新的组织病理学发现，复杂的角膜异常，包括先天性角膜混浊和不可逆的内皮代偿失调。
方法：这项回顾性研究包括3例ARS患者的6只眼，其中5人于2016年5月至2019年1月接受角膜移植术治疗不可逆的内皮代偿失调。没有眼睛有手术史。我们回顾了流行病学的数据，临床表现和组织病理学检查。
结果：五只眼睛出现了不可逆的内皮代偿失调，其中4例出生时角膜混浊。一只眼睛表现出透明的角膜，但在没有手术的情况下显示出内皮细胞的连续损失，此后眼内压升高。前节光学相干断层扫描照片显示角膜混浊区域存在前粘连，在光学显微镜下，我们发现由发育不良的虹膜和基底膜样结构插入的Descemet膜的夹层分裂。
结论：前粘连可能与ARS患者的角膜异常有关。新的组织病理学发现揭示了眼前节发育不全之间的内在联系，并将有助于探索ARS角膜异常的内部机制。
方法：这项回顾性研究包括3例ARS患者的6只眼，其中5人于2016年5月至2019年1月接受角膜移植术治疗不可逆的内皮代偿失调。没有眼睛有手术史。我们回顾了流行病学的数据，临床表现和组织病理学检查。
结果：五只眼睛出现了不可逆的内皮代偿失调，其中4例出生时角膜混浊。一只眼睛表现出透明的角膜，但在没有手术的情况下显示出内皮细胞的连续损失，此后眼内压升高。前节光学相干断层扫描照片显示角膜混浊区域存在前粘连，在光学显微镜下，我们发现由发育不良的虹膜和基底膜样结构插入的Descemet膜的夹层分裂。
结论：前粘连可能与ARS患者的角膜异常有关。新的组织病理学发现揭示了眼前节发育不全之间的内在联系，并将有助于探索ARS角膜异常的内部机制。
