Salvatore S, Carnevale C, Infussi R, Arrico L, Mafrici M, Plateroti A M, Vingolo E M
Dipartimento di Science Oftalmologiche, Universita' La Sapienza, Polo Pontino, Italia.
Clin Ter. 2012;163(2):e85-94.
Waadernburg syndrome (WS) is an autosomal dominant disease clinically and genetically heterogeneous. It is characterized by non-progressive sensorineuronal hearing loss of variable degree and anomalous pigmentation (of the eyes, skin and stria vascularis of cochlear duct) caused by melanocytes absence. The syndrome is caused by mutations in genes that regulate the melanocytes differentiation from the neural crest during embriogenetic development. This study will review the literature on WS and explain more in detail the ocular findings in WS, while reporting new findings on two newly diagnosed cases.
瓦登伯革氏综合征（WS）是一种临床和基因均具有异质性的常染色体显性疾病。其特征为程度不一的非进行性感音神经性听力损失以及由于黑素细胞缺失导致的（眼睛、皮肤和耳蜗管血管纹的）色素沉着异常。该综合征是由胚胎发育过程中调控神经嵴黑素细胞分化的基因突变引起的。本研究将回顾关于WS的文献，并更详细地解释WS的眼部表现，同时报告两例新诊断病例的新发现。
