Weleber R G, Zonana J
Am J Ophthalmol. 1983 Dec;96(6):740-3. doi: 10.1016/s0002-9394(14)71917-8.
Iris hamartomas (Lisch nodules), previously reported in cases of peripheral neurofibromatosis, were found in a 14-year-old girl with segmental neurofibromatosis. The girl was in the 75th percentile for height (168 cm), the 90th percentile for weight (63 kg), and the 50th percentile for head circumference (55 cm). Her blood pressure was 105/70 mm Hg. Her visual acuity (20/20 and J 1), ocular motility, pupillary responses, visual fields, color vision, stereopsis, and intraocular pressure were within normal limits. Biomicroscopy showed several tan elevated nodular hamartomas on the anterior surface of the right peripheral iris but none elsewhere in the right eye and none in the left eye. Café-au-lait spots and freckling were also limited to the right side of the body. The child had no palpable neurofibromas and was in good health and of normal intelligence. There was no family history of neurofibromatosis, multiple café-au-lait spots, axillary freckling, macrocephaly, or learning disabilities. The absence of iris hamartomas has been used to distinguish segmental neurofibromatosis from the peripheral and central or acoustic forms. Thus, their presence in this case is clinically significant. The segmental form not only produces fewer complications but carries less genetic risk. In segmental neurofibromatosis, the Lisch nodules would be expected to be unilateral rather than bilateral, ipsilateral to the side of the cutaneous involvement, and more frequently associated with contiguous cutaneous lesions.
虹膜错构瘤（Lisch结节）先前曾在周围型神经纤维瘤病病例中被报道，在一名患有节段性神经纤维瘤病的14岁女孩中被发现。该女孩身高处于第75百分位（168厘米），体重处于第90百分位（63千克），头围处于第50百分位（55厘米）。她的血压为105/70毫米汞柱。她的视力（20/20和J1）、眼球运动、瞳孔反应、视野、色觉、立体视觉和眼压均在正常范围内。生物显微镜检查显示，在右眼周边虹膜前表面有几个黄褐色隆起的结节状错构瘤，而右眼其他部位及左眼均未发现。牛奶咖啡斑和雀斑也仅限于身体右侧。该患儿未触及神经纤维瘤，身体健康，智力正常。没有神经纤维瘤病、多发性牛奶咖啡斑、腋窝雀斑、巨头畸形或学习障碍的家族史。虹膜错构瘤的缺失曾被用于区分节段性神经纤维瘤病与周围型、中枢型或听神经型。因此，它们在该病例中的存在具有临床意义。节段型不仅产生的并发症较少，而且遗传风险较低。在节段性神经纤维瘤病中，Lisch结节预计为单侧而非双侧，与皮肤受累侧同侧，且更常与相邻的皮肤病变相关。
