hedgehog 信号缺陷导致家族性渗出性玻璃体视网膜病变样疾病和胃肠道畸形。
Hedgehog Signal Defect Leading to Familial Exudative Vitreoretinopathy-Like Disease and Gastrointestinal Malformation.
机构信息
Başkent University Faculty of Medicine, Adana Research and Training Center, Department of Ophthalmology, Adana, Turkey.
Başkent University Faculty of Medicine, Department of Ophthalmology, Ankara, Turkey.
出版信息
Turk J Ophthalmol. 2022 Jun 29;52(3):174-178. doi: 10.4274/tjo.galenos.2021.72929.
OBJECTIVES
The aim of the study was to present a new genetic association presenting with gastrointestinal tract malformations (GTMs) and familial exudative vitreoretinopathy (FEVR)-like disease and review the genetics of Hedgehog signaling.
MATERIALS AND METHODS
Three neonates were diagnosed with FEVR-like retinal vascular disease upon routine ophthalmological examination during hospitalization in the neonatal surgical intensive care unit for GTMs. Genetic analysis of the neonates was performed.
RESULTS
Gestational age of the neonates was 39, 38, and 39 weeks and birth weights were 3,500, 3,600, and 3,300 grams, respectively. All six eyes of the three infants were treated by laser photocoagulation. Recurrence was not seen in any of the eyes. Genetical analysis of all the neonates diagnosed with FEVR-like disease revealed defects in the Hedgehog pathway.
CONCLUSION
FEVR is a genetically well-defined retinal vascular disease. The current study is the first to show an association between FEVR-like retinal vascular disease and GTMs. This study demonstrates the importance of the Hedgehog pathway in retinal vascular and gut development.
目的
本研究旨在介绍一种新的遗传相关性疾病，其表现为胃肠道畸形（GTM）和家族性渗出性玻璃体视网膜病变（FEVR）样疾病，并综述 Hedgehog 信号通路的遗传学。
材料和方法
3 名新生儿因 GTM 在新生儿外科重症监护病房住院期间常规眼科检查发现 FEVR 样视网膜血管疾病，并对新生儿进行了基因分析。
结果
新生儿的胎龄分别为 39 周、38 周和 39 周，出生体重分别为 3500 克、3600 克和 3300 克。3 名婴儿的 6 只眼睛均接受激光光凝治疗。所有眼睛均未见复发。诊断为 FEVR 样疾病的所有新生儿的基因分析显示 Hedgehog 通路存在缺陷。
结论
FEVR 是一种具有明确遗传学特征的视网膜血管疾病。本研究首次表明 FEVR 样视网膜血管疾病与 GTM 之间存在关联。本研究表明 Hedgehog 通路在视网膜血管和肠道发育中的重要性。
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