进行性视锥细胞营养不良
Progressive cone dystrophy
ORPHA:1871疾病
定义 英文原文（暂无中文）
A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.
别名
锥体营养不良
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 成年期
相关基因 4
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CNGB3 | cyclic nucleotide gated channel subunit beta 3 | Disease-causing germline mutation(s) in |
| GNAT2 | G protein subunit alpha transducin 2 | Disease-causing germline mutation(s) in |
| GUCA1A | guanylate cyclase activator 1A | Disease-causing germline mutation(s) in |
| PDE6C | phosphodiesterase 6C | Disease-causing germline mutation(s) in |
临床表型 5
极常见 99–80%5
- 视网膜电图异常 HP:0000512
- 视网膜色素异常 HP:0007703
- 色觉缺陷 HP:0000551
- 畏光 HP:0000613
- 视觉障碍 HP:0000505
外部标识与链接
OrphanetOMIM:180020OMIM:300085OMIM:304030MONDO:455GARD:11897ICD-10 H35.5ICD-11 9B70ClinicalTrials.gov 检索
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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）