Muci-Mendoza R, Ramella M, Fuenmayor-Rivera D
Neuro-Ophthalmology Unit, Hospital Vargas de Caracas, José María Vargas School of Medicine, Central University of Venezuela.
Br J Ophthalmol. 2002 Mar;86(3):282-4. doi: 10.1136/bjo.86.3.282.
To describe a distinctive spectrum of retinal microvascular abnormalities in 12 patients with neurofibromatosis type 1 (NF-1).
This is an observational prospective study of the ocular fundus evaluated by direct ophthalmoscopy with or without fluorescein angiography, to investigate retinal microvascular abnormalities in 32 patients with NF-1 and in 30 control subjects. The evaluation included a complete general and neurological physical examination and in some cases computed tomography, magnetic resonance imaging with gadolinium-DTPA, or both.
The occurrence of a distinctive spectrum of retinal microvascular abnormalities is described in 12 patients with NF-1 (37.5%). At the lower end of the spectrum, present in 10 patients, the anomaly consisted of minuscule second or third order tortuous venules, which were called "corkscrew retinal vessels." These were usually isolated but in a few cases multiple. They flow towards the superior or inferior temporal veins. They had a length of one to two disc diameters. They ended either in a minute tuft or vanished on the retinal surface. The upper end of the spectrum was seen in only two patients. One of them had an exceptionally large venous anastomosis on the nasal retina and the other had an arteriovenous malformation extending over one retinal quadrant. None of the patients in the control group had such retinal microvascular abnormalities.
The "corkscrew" retinal vessels described in this report constitute a broad spectrum of microvascular markers in NF-1 patients.
描述12例1型神经纤维瘤病（NF-1）患者独特的视网膜微血管异常谱。
这是一项观察性前瞻性研究，通过直接检眼镜检查（有或无荧光素血管造影）评估眼底，以研究32例NF-1患者和30例对照者的视网膜微血管异常。评估包括全面的全身和神经系统体格检查，部分病例还包括计算机断层扫描、钆喷酸葡胺磁共振成像或两者。
描述了12例NF-1患者（37.5%）出现独特的视网膜微血管异常谱。在该谱的下限，10例患者存在异常，表现为微小的二级或三级迂曲小静脉，称为“螺旋状视网膜血管”。这些通常是孤立的，但少数情况下是多发的。它们向上或下颞静脉方向流动。长度为1至2个视盘直径。它们要么终止于微小的血管丛，要么消失在视网膜表面。该谱的上限仅在2例患者中出现。其中1例在鼻侧视网膜有一个异常大的静脉吻合，另1例有一个跨越一个视网膜象限的动静脉畸形。对照组中无一例有此类视网膜微血管异常。
本报告中描述的“螺旋状”视网膜血管构成了NF-1患者广泛的微血管标志物谱。
