Rosner J
College of Optometry, University of Houston, TX.
J Am Optom Assoc. 1990 Aug;61(8):613-8.
Neurofibromatosis (NF), also known as von Recklinghausen's disease, is a prevalent genetic disorder--as common as cystic fibrosis and Down's syndrome and twice as prevalent as muscular dystrophy; it occurs in approximately one of 3000 live births. NF often involves the eyes and visual pathways; many NF patients first present early in life because of ocular complaints. But, because mental retardation can be a complication of the disease, such patients are difficult to examine and, as a result, the disease is sometimes not recognized. The purpose of this paper is to provide an overview of the condition along with a case report of an eight year old child with NF.
神经纤维瘤病（NF），也称为冯·雷克林豪森病，是一种常见的遗传性疾病——其发病率与囊性纤维化和唐氏综合征相当，是肌肉萎缩症的两倍；每3000例活产中约有1例发生。NF常累及眼睛和视觉通路；许多NF患者因眼部不适在生命早期首次就诊。但是，由于智力迟钝可能是该疾病的一种并发症，这类患者难以检查，因此该疾病有时未被识别。本文的目的是概述这种疾病，并报告一例8岁NF患儿的病例。
