Ragge N K, Falk R E, Cohen W E, Murphree A L
Division of Ophthalmology, Children's Hospital, University of Southern California, Los Angeles 90027.
Eye (Lond). 1993;7 ( Pt 1):95-101. doi: 10.1038/eye.1993.20.
The presence of melanocytic hamartomas on the iris, known eponymously as Lisch nodules, is highly characteristic of neurofibromatosis type 1 (NF1). Early recognition of NF1 is vital for optimal detection of associated tumours and for genetic counselling of family members. Although the iris nodules are probably not visible at birth, their prevalence in patients with NF1 gradually increases from birth to about 50% of 5-year-olds, 75% of 15-year-olds and 95-100% of adults over the age of 30. Iris hamartomas in NF1 are elevated, pale brown lesions that vary in appearance depending on the underlying colour of the iris. Colour illustrations are shown in this article, enabling the clinician readily to differentiate hamartomas from other iris lesions.
虹膜上存在黑素细胞错构瘤，即所谓的Lisch结节，是1型神经纤维瘤病（NF1）的高度特征性表现。早期识别NF1对于最佳检测相关肿瘤以及为家庭成员提供遗传咨询至关重要。虽然虹膜结节在出生时可能不可见，但它们在NF1患者中的患病率从出生到5岁儿童约为50%、15岁儿童约为75%以及30岁以上成年人约为95 - 100%逐渐增加。NF1中的虹膜错构瘤是隆起的淡褐色病变，其外观因虹膜的底色而异。本文展示了彩色插图，使临床医生能够轻松地将错构瘤与其他虹膜病变区分开来。
