Storimans C W, Oosterhuis J A, van Schooneveld M J, Bos P J, Maaswinkel-Mooy P D
Department of Ophthalmology, State University Leiden, The Netherlands.
Doc Ophthalmol. 1990 Oct;75(3-4):259-61. doi: 10.1007/BF00164839.
We describe a new hereditary syndrome with an autosomal dominant mode of inheritance, with vascular retinopathy, migraine and Raynaud's phenomenon as the most striking features. The retinopathy is characterized by tortuosity and variable caliber of the retinal vessels, haemorrhages, telangiectases and both central and peripheral vascular occlusions, leading finally to a proliferative retinopathy.
我们描述了一种新的具有常染色体显性遗传模式的遗传性综合征,其最显著的特征为血管性视网膜病变、偏头痛和雷诺现象。视网膜病变的特征是视网膜血管迂曲、管径可变、出血、毛细血管扩张以及中央和外周血管阻塞,最终导致增殖性视网膜病变。