Amon M, Menapace R, Kirnbauer R
1st University Eye Clinic Vienna, Austria.
Ophthalmologica. 1990;200(1):1-6. doi: 10.1159/000310069.
Hypomelanosis Ito (HI) is a very rare neurocutaneous syndrome which is often associated with cutaneous, cerebral, musculoskeletal and ocular abnormalities. The paper deals with changes in familial HI (mother and daughter) with special consideration of ocular symptomatology; it also presents a review about the relevant literature published to date--not documented with photographs with one exception. The argument is raised whether all ocular changes described in HI actually belong to the syndrome or are partly a mere coincidence. There is also a description of a cataract which has never been observed in cases of HI. Electrophysiological tests (electroretinography, electro-oculography, visual-evoked potential) which to date have not been carried out for HI, are presented and their results reported. Mention is also made of the hereditary factor which has so far been questioned; it is assumed that it is autosomal dominant in character. In this context, the results of a chromosome analysis in both mother and daughter are presented.
伊藤色素减退症（HI）是一种非常罕见的神经皮肤综合征，常伴有皮肤、大脑、肌肉骨骼和眼部异常。本文探讨了家族性HI（母亲和女儿）的变化，并特别考虑了眼部症状；还对迄今为止发表的相关文献进行了综述——除一篇外均无照片记录。文中提出了一个问题，即HI中描述的所有眼部变化是否真的属于该综合征，还是部分仅仅是巧合。文中还描述了一例HI病例中从未观察到的白内障。介绍了迄今为止尚未针对HI进行的电生理测试（视网膜电图、眼电图、视觉诱发电位）及其结果。文中还提到了迄今为止一直受到质疑的遗传因素；假定其为常染色体显性遗传。在此背景下，展示了母亲和女儿的染色体分析结果。
