دورية أكاديمية

Eye Disorders in Neurofibromatosis (NF1)

التفاصيل البيبلوغرافية
العنوان: Eye Disorders in Neurofibromatosis (NF1)
المؤلفون: Kordić, Rajko, Sabol, Zlatko, Cerovski, Branimir, Katušić, Damir, Jukić, Tomislav
المصدر: HRČAK Portal of Croatian Scientific and Professional Journals ; Collegium antropologicum ; ISSN 0350-6134 (Print) ; ISSN 1848-9486 (Online) ; Volume 29 - Supplement 1 ; Issue 1
بيانات النشر: Croatian Anthropological Society
سنة النشر: 2005
مصطلحات موضوعية: eye disorders, neurofibromatosis, psy, socio
الوصف: 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.
نوع الوثيقة: text
اللغة: English
العلاقة: 10670/1.60zzz5; https://hrcak.srce.hr/27899Test
الإتاحة: https://hrcak.srce.hr/27899Test
حقوق: other
رقم الانضمام: edsbas.B21C043B
قاعدة البيانات: BASE