Yasunari T, Shiraki K, Hattori H, Miki T
Department of Ophthalmology, Osaka City University Medical School, Osaka, Japan.
Lancet. 2000 Sep 16;356(9234):988-92. doi: 10.1016/S0140-6736(00)02716-1.
Choroidal neurofibromatosis is thought to be a rare form of neurofibromatosis that involves the eyes. The development of infrared light examination with a scanning laser ophthalmoscope (SLO) and indocyanine-green fundus angiography has allowed examination of the choroid. We studied choroidal abnormalities in patients with neurofibromatosis 1 and compared their frequency with that of other ocular abnormalities.
We examined 33 eyes of 17 consecutive patients diagnosed with neurofibromatosis 1 by conventional ophthalmoscopy and by non-invasive infrared monochromatic light with confocal SLO. 76 eyes of 39 age-matched controls were examined similarly by confocal SLO. 21 digital fluorescein and indocyanine-green angiographies were obtained from 11 adult patients, and 77 angiograms were obtained from age-matched controls.
Infrared monochromatic light examination by confocal SLO showed bright multiple patchy regions at and around the entire posterior pole of all 33 eyes examined. All bright patchy regions seen in adult patients corresponded to hypofluorescent areas on their indocyanine-green angiograms. However, no abnormalities were noted in any patient at corresponding areas under conventional ophthalmoscopic examination or fluorescein angiography. In SLO and indocyanine-green studies, controls and control angiograms showed no choroidal abnormalities. Iris nodules were noted in 25 eyes (76%) of 14 patients (82%) and eyelid neurofibroma in five patients (29%).
The bright patchy regions noted under infrared fundus examination and the corresponding hypofluorescent areas seen on indocyanine-green angiograms are probably of choroidal origin. The high frequency (100%) of these abnormalities suggests that the choroid is one of the structures most commonly affected by neurofibromatosis 1.
脉络膜神经纤维瘤病被认为是神经纤维瘤病的一种罕见形式，累及眼部。扫描激光检眼镜（SLO）红外光检查和吲哚菁绿眼底血管造影技术的发展使得对脉络膜的检查成为可能。我们研究了1型神经纤维瘤病患者的脉络膜异常情况，并将其发生率与其他眼部异常的发生率进行了比较。
我们通过传统检眼镜检查以及使用共焦SLO的无创红外单色光检查，对17例连续诊断为1型神经纤维瘤病的患者的33只眼睛进行了检查。通过共焦SLO对39名年龄匹配的对照者的76只眼睛进行了类似检查。从11名成年患者中获得了21份数字荧光素和吲哚菁绿血管造影图像，从年龄匹配的对照者中获得了77份血管造影图像。
共焦SLO的红外单色光检查显示，在所有接受检查的33只眼睛的整个后极及其周围有多个明亮的斑片状区域。成年患者中看到的所有明亮斑片状区域在其吲哚菁绿血管造影图像上对应于低荧光区域。然而，在传统检眼镜检查或荧光素血管造影的相应区域，未在任何患者中发现异常。在SLO和吲哚菁绿研究中，对照者及其血管造影图像均未显示脉络膜异常。在14例患者（82%）的25只眼睛（76%）中发现了虹膜结节，5例患者（29%）发现了眼睑神经纤维瘤。
红外眼底检查中发现的明亮斑片状区域以及吲哚菁绿血管造影图像上看到的相应低荧光区域可能起源于脉络膜。这些异常的高发生率（100%）表明脉络膜是1型神经纤维瘤病最常累及的结构之一。
