Familial Exudative Vitreoretinopathy-Report of Two Families

家族性滲出性玻璃體視網膜病變－二家族病例報告

吳靜欣(Ching-Hsin Wu) ； 郭錫恭(Hsi-Kung Kou) ； 林淑妍(Sue-Ann Lin)

《中華民國眼科醫學會雜誌》 41卷2期 (2002/06) Pp. 181-187

https://doi.org/10.30048/ACTASOS.200206.0015

摘要

目的：介紹二個罹患家族性滲出性玻璃體視網膜病變(FEVR)的家族。
方式：利用眼底照相及螢光眼底攝影以記錄此二FEVR家族成員的眼底表徵。
結果：在第一個FEVR家族中，父親及大女兒的眼部理學檢查均為正常，而母親眼底檢查可見顯側週邊視網膜無血管區，並可由螢光眼底攝影詳見V型末端血管分枝。而二女兒及三女兒眼底檢查均可見鐮形網膜皺褶從視神經盤延伸至顳側週邊視網膜。第二個FEVR家族中，母親的眼部理學檢查為正常，而父親眼底檢查則顯示雙眼顯側週邊視網膜無血管區。而其唯一兒子的眼底檢查則顯示顯側視網膜纖維血管增生併滲出性及牽引性視網膜剝離。此二FEVR家族的遺傳方式均為自體顯性遺傳。
結論：視網膜週邊血管提早停止生長是造成FEVR自體顯性遺傳的重要致病機轉，整個家族的篩檢是正確診斷FEVR所必須的。

並列摘要

Purpose: To present two families with familial exudative vitreoretinopathy (FEVR)
Methods: Fundus photography and fluorescein angiography (FA) were performed to study the ocular findings of FEVR in two families
Results: In the first family, the ocular examinations of the father and the elder daughter were normal. The mother's temporal peripheral retina was avasculized and a typical V-shaped notch between the terminal ramification of vessels could be found in the FA. The second and the third daughters had a falciform retinal fold extending from the disc across the posterior pole to the temporal periphery in both eyes. In the second family, the ocular examination of the mother was normal. The fundus examination of the father showed bilateral retinal vascular system drop-out at the mid-periphery especially on the temporal side. The fundus examination of the son also revealed fibrovascular proliferation over the temporal periphery with exudative and tractional retinal detachment.
Conclusion: Premature arrest of vascular development of the retina is the pathogenesis of FEVR in this autosomal dominant inherited disease. In order to accurately diagnose FEVR, the screening of the whole family is necessary.

並列關鍵字

Familial exudative vitreoretinopathy ； autosomal dominant