Abaloun Yassine, Ajhoun Yousra
Université Mohammed V Souissi, Service d'Ophtalmologie de l'Hôpital Militaire Mohamed V, Hay Riad, Rabat, Maroc.
Pan Afr Med J. 2017 Jul 21;27:218. doi: 10.11604/pamj.2017.27.218.11517. eCollection 2017.
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common manifestations but it can also affect other organs including eyes, bones and other areas. Lisch nodules are the most common ocular manifestations in NF-1. They are asymptomatic small pigmented iris tumors (iris hamartomas) which can help suggest the diagnosis of NF1 as they are characteristic of this disease and mostly occur in adult patients. We report the case of a 45-year old female patient followed for a neurofibromatosis type 1 retained on the presence of multiple cutaneous café-au-lait spots and neurofibromas. Ophthalmologic examination showed visual acuity of 10/10 P3 in both eyes. Biomicroscopic examination showed Lisch nodules of the iris in both eyes (A,B).
1型神经纤维瘤病（NF1）或冯·雷克林豪森病表现为皮肤牛奶咖啡斑和神经纤维瘤。它是最常见的常染色体显性遗传病之一。其个体表现极具变异性。皮肤和神经症状是最常见的表现，但它也可影响包括眼睛、骨骼和其他部位在内的其他器官。Lisch结节是NF-1最常见的眼部表现。它们是无症状的小色素性虹膜肿瘤（虹膜错构瘤），由于其是该疾病的特征且大多发生于成年患者，因此有助于提示NF1的诊断。我们报告了一名45岁女性患者的病例情况，该患者因存在多个皮肤牛奶咖啡斑和神经纤维瘤而被诊断为1型神经纤维瘤病。眼科检查显示双眼视力均为10/10 P3。生物显微镜检查显示双眼虹膜均有Lisch结节（A、B）。
