持续性原始玻璃体增生症
Persistent hyperplastic primary vitreous
ORPHA:91495疾病
定义 英文原文（暂无中文）
A rare ophthalmic disorder characterized by mostly unilateral failure of the regression of a fetal ocular vessel component, the tunica vasculosa lentis and/or the hyaloid system, resulting in an anterior (presenting with microphthalmia, leukocoria, cataract, glaucoma, elongated ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes, among others) or posterior disease subtype (with microphthalmia, leukocoria, presence of a retinal fold or detachment, hypo- or dysplastic optic nerve, and vitreous membranes and stalk), respectively. Most patients present with a combination of the two subtypes.
别名
非综合征性先天性视网膜不附着
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| FZD4 | frizzled class receptor 4 | Disease-causing germline mutation(s) in |
| NDP | norrin cystine knot growth factor NDP | Disease-causing germline mutation(s) in |
| ATOH7 | atonal bHLH transcription factor 7 | Disease-causing germline mutation(s) in |
临床表型 24
必现 100%1
- 玻璃体血管系统残留 HP:0007968
极常见 99–80%5
- 白内障 HP:0000518
- 角膜混浊 HP:0007957
- 白瞳症 HP:0000555
- 小眼症 HP:0000568
- 视力下降 HP:0007663
常见 79–30%6
- 闭角型青光眼 HP:0012109
- 发育性白内障 HP:0000519
- 视盘前的胶质残留 HP:0030743
- 玻璃体血管残余和晶体后团块 HP:0030744
- 瞳孔膜存留 HP:0009917
- 牵拉性视网膜脱离 HP:0007917
偶见 29–5%11
- 弱视 HP:0000646
- 失明 HP:0000618
- 爆裂眼 HP:0000557
- 泪液分泌增加 HP:0009926
- 眼出血 HP:0011885
- 黄斑发育不良 HP:0001104
- 小角膜 HP:0000482
- 眼萎缩 HP:0000667
- 视网膜皱襞 HP:0008052
- 浅前房 HP:0000594
- 斜视 HP:0000486
罕见 <4–1%1
- 异位钙化 HP:0010766
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）