Eye disorders in neurofibromatosis (NF1).
نویسندگان
چکیده
Neurofibromatosis type 1 (NF 1) is an autosomal dominant disorder with high index of spontaneous mutations and extremely varied and impredictible clinical manifestations. The aim of this work was to give an account of eye disorders in NF1. 132 patients of age 0-16 years with NF1 were followed up for 15 years. They were checked repeatedly for ophthalmologic disorders. Frequent eye disorders were: Lisch nodules (Iris hamartomas, IH) 78%, hyperthelorism 19.7%, bulbomotoric disorders 15.9%, disorders of the optic disc 16.7% and optic gliomas (18.9%). The highest incidence of eye disorders by NF1 patients showed Lisch nodules (IH). Its ease of clinical recognition and if present with other diagnostic signs (for instance café au lait patches) could be deemed as reliable diagnostic criterion of NF1 in childhood.
منابع مشابه
A review on 17 cases of type I Neurofibromatosis associated with malignancies
Background: Neurofibromatosis 1 (NF1) is a relatively common autosomal dominant condition. Among the complications of the disease, such as neurological disorders, hypertension and skeletal deformities, malignancy is the most serious one and is the main cause of early death in these patients. Objective: Review of cases of NF-1 associated with malignancies. Patents and Methods: In a retrospective...
متن کاملPrimary Malignant Melanoma of the Gastrointestinal Tract: Report of Two Cases
Although gastrointestinal involvement by metastatic malignant melanoma is common but primary gastrointestinal (GI) melanoma has been reported in rare cases. In this study we report two cases of primary gastrointestinal malignant melanoma that one of them is a known case of neurofibromatosis type 1(NF1). Both cases showed no evidence of any lesions in skin and eye. Malignant melanoma of GI tract...
متن کاملThe molecular genetics of neurofibromatosis type 1 and its future prospective
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that is caused through loss of function mutations of a tumor suppressor gene termed neurofibromin 1. Therapeutic decisions are presently restricted for NF1-associated tumors, where treatment is often restricted to thorough surgical resection with perfect margins. In this review article, the multif...
متن کاملNeurofibromatosis Type 1 with Massive Ventricular Polyposis: First Report in the Medical Literature
BACKGROUND Neurofibromatosis type 1 (NF1) is a multisystemic disorder with genetic background, characterised by specific cutaneous findings, skeletal dysplasias, and growth of both benign and malignant nervous system tumours. NF1 is caused by mutations in the NF1 gene, situated in chromosome 17q11.2, with an autosomal dominant pattern of inheritance and clinical manifestation of neurofibromas, ...
متن کاملNeurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta
Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant genetic disorder with a prevalence of 1 in 3,000 (0.03%) at birth. Clinical features are café-au-lait macules, intertriginous freckling, dermal neurofibroma, iris hamartoma (Lisch nodules), and learning disability. NF1 vasculopathy is a serious but underrecognized complication involving the cerebrovascular and cardiovascul...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Collegium antropologicum
دوره 29 Suppl 1 شماره
صفحات -
تاریخ انتشار 2005