Persistence of fetal vasculature in a patient with Knobloch syndrome - Potential role for endostatin in fetal vascular remodeling of the eye
Persistence of fetal vasculature in a patient with Knobloch syndrome - Potential role for endostatin in fetal vascular remodeling of the eye
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DOI：
10.1016/j.ophtha.2004.03.030
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发表时间：
2004-10-01
期刊：
影响因子：
13.7
通讯作者：
Goldberg, MF
中科院分区：
文献类型：
--
作者：
Duh, EJ;Yao, YG;Goldberg, MF
目的：报告1例Knobloch综合征（KS）患儿，以持续性胎儿血管（PFV）为特征，探讨内皮抑素在胎儿眼血管重塑中的可能作用。设计：病例报告，采用酶联免疫吸附试验（ELISA）分析血清内皮抑素。主要结果指标：眼部检查、荧光血管造影、超声心动图、血清内皮抑素ELISA分析、COL18A1致病性突变分型。左眼裂隙灯检查发现许多PFV结果，包括广泛的持续性瞳孔膜、虹膜隐窝稀少和前透镜表面上的色素囊外膜星状残留物。扩张眼底检查显示完全玻璃体后脱离，尽管患者年龄较小，但有大量白色凝胶内混浊，与玻璃体固有血管的残留物相容。眼底呈镶嵌状，血管造影可见大脉络膜血管。视盘颞下有一个视网膜脉络膜葡萄肿。暂时没有视网膜血管可见，并且没有黄斑分化或中心凹凹陷。竞争性ELISA分析未检测到血清内皮抑素。没有8个报告的致病性突变的COL18A1基因被发现在patient.Conclusions：持续胎儿血管可能是一个临床和重要的表现，在一些KS患者，可以解释为缺乏内皮抑素。内皮抑制素缺乏可能导致眼睛中胎儿血管（包括玻璃体腔）的退化减少或延迟，从而导致视网膜中正常血管系统的发育不完全。我们对报告的COL18A1突变的分型结果证实了KS的遗传异质性。(C)2004年，美国眼科学会。
Objective: To report a child with Knobloch syndrome (KS) with features of persistent fetal vasculature (PFV) and to discuss the possible role of endostatin in vascular remodeling of the fetal eye.Design: Case report with enzyme-linked immunosorbent assay (ELISA) analysis of serum endostatin.Main Outcome Measures: Ocular examination, fluorescein angiography, echography, ELISA analysis of serum endostatin, and typing for pathogenic mutations in COL18A1.Results: Slit-lamp examination in the left eye disclosed numerous findings of PFV, including an extensive persistent pupillary membrane, scarcity of iris crypts, and pigmented epicapsular stellate remnants on the anterior lens surface. Dilated fundus examination revealed a total posterior vitreous detachment, despite the young age of the patient, with numerous white intragel opacities that were compatible with remnants of the vasa hyaloidea propria. The fundus had a tesselated appearance with angiographically visible large choroidal vessels. There was a retinochoroidal staphyloma inferotemporal to the optic disc. There were no retinal vessels visible temporally, and there was no macular differentiation or foveal pit. Competitive ELISA analysis disclosed no detectable serum endostatin. None of the 8 reported pathogenic mutations in the COL18A1 gene was found in the patient.Conclusions: Persistent fetal vasculature may be a clinical and important manifestation in some patients with KS and can be explained by a deficiency in endostatin. Endostatin deficiency may result in reduced or delayed regression of fetal blood vessels in the eye (including the intravitreal compartment), thereby resulting in incomplete development of the normal vasculature in the retina. Our typing results for the reported COL18A1 mutations confirm the genetic heterogeneity of KS. (C) 2004 by the American Academy of Ophthalmology.