家族性玻璃疣
Autosomal dominant drusen
ORPHA:75376疾病
定义 英文原文（暂无中文）
A rare, genetic macular dystrophy disorder characterized by the presence of small yellow-white accumulations of extracellular material under the retinal pigment epithelium in the ocular posterior pole, and affecting multiple members of a family. The disease has a variable clinical presentation ranging from asymptomatic patients to progressive loss of vision and scotomas, possibly associated with subfoveal choroidal neovascularization, extensive pigmentary changes, geographic atrophy and/or subretinal hemorrhage.
别名
多英(氏)蜂窝状视网膜营养不良
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 成年期
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CFH | complement factor H | Disease-causing germline mutation(s) in |
| CFI | complement factor I | Disease-causing germline mutation(s) in |
| EFEMP1 | EGF-like fibulin extracellular matrix protein 1 | Disease-causing germline mutation(s) in |
临床表型 20
必现 100%2
- 黄斑玻璃疣 HP:0030499
- 黄斑黄/白病变 HP:0030500
极常见 99–80%3
- 黄斑营养不良 HP:0007754
- 网状视网膜色素变性 HP:0007937
- 视力丧失 HP:0000572
常见 79–30%6
- 视网膜色素异常 HP:0007703
- 强自发荧光型黄斑病变 HP:0030631
- 弱自发荧光型黄斑病变 HP:0030632
- 黄斑色素沉着 HP:0011509
- 视物变形 HP:0012508
- 中央凹周边强自动荧光环 HP:0030629
偶见 29–5%9
- 脉络膜新生血管 HP:0011506
- 渗出性视网膜脱离 HP:0012231
- 斑点状黄斑色素异常 HP:0007793
- 黄斑萎缩 HP:0007401
- 黄斑出血 HP:0025574
- 旁中央暗点 HP:0030528
- 乳头旁脉络膜视网膜萎缩 HP:0007950
- 畏光 HP:0000613
- 视网膜下积液 HP:0031526
外部标识与链接
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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）