进行性双焦点型脉络膜视网膜萎缩
Progressive bifocal chorioretinal atrophy
ORPHA:75373疾病
定义 英文原文（暂无中文）
A rare genetic isolated chorioretinal dystrophy characterized by distinctive slowly progressing chorioretinal atrophic lesions inducing significant visual impairment. There are three clinical stages. Atrophic macular lesion and nasal subretinal deposits are evident soon after birth (stage 1), the macular lesions progress beyond the retinal vascular arcades, and the foci of nasal atrophy coalesce into a confluent white lesion (stage 2), and marked expansion of both the macular and the nasal atrophic lesions toward the optic disc is observed (stage 3). Patients may also present with photophobia, nystagmus and myopia.
别名
CRAPB、PBCRA
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| DHS6S1 | DNase1 hypersensitivity, chromosome 6, site 1 | Disease-causing germline mutation(s) in |
临床表型 7
极常见 99–80%6
- 脉络膜视网膜营养不良 HP:0001135
- 内斜视 HP:0000565
- 黄斑萎缩 HP:0007401
- 近视 HP:0000545
- 眼球震颤 HP:0000639
- 视觉障碍 HP:0000505
偶见 29–5%1
- 色素性视网膜病 HP:0000580
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）