视网膜和视网膜色素上皮联合错构瘤

定义 英文原文（暂无中文）

A rare benign eye tumor characterized by the presence of glial cells, vascular tissue, and sheets of pigment epithelial cells lacking the distribution and organization of the normal retina and retinal pigment epithelium. The lesion is most commonly found unilaterally as a slightly elevated mass in a peripapillary location but can also occur in the macula or the retinal periphery. It is sometimes associated with neurofibromatosis type 1 or 2, nevoid basal cell carcinoma syndrome, or branchio-oculo-facial syndrome. Patients may be asymptomatic or present with progressive loss of vision.

别名

视网膜和RPE联合错构瘤

基本事实

遗传方式

不适用

发病年龄

儿童期

患病率

<1 / 1 000 000

临床表型 7

外部标识与链接