• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

中国主要遗传性眼病的患病率及遗传方式。

Prevalence and mode of inheritance of major genetic eye diseases in China.

作者信息

Hu D N

机构信息

Zhabei Eye Institute, Shanghai.

出版信息

J Med Genet. 1987 Oct;24(10):584-8. doi: 10.1136/jmg.24.10.584.

DOI:10.1136/jmg.24.10.584
PMID:3500313
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050283/
Abstract

The prevalence and mode of inheritance of major genetic eye diseases have been investigated in China since the establishment of the Section of Ophthalmic Genetics of the Chinese Society of Genetics. Mass screening of genetic eye diseases has been undertaken in many districts in China, covering more than 700,000 people, and more than 5000 pedigrees of genetic eye diseases have been collected and analysed all over China. Based on these data, the prevalence and mode of inheritance of dyschromatopsia, degenerative myopia, retinitis pigmentosa, congenital ptosis, congenital microphthalmos, congenital cataract, congenital glaucoma, Leber's optic atrophy, corneal dystrophy, congenital nystagmus, coloboma of the eye, congenital aniridia, retinoblastoma, macular dystrophy, simple myopia, primary glaucoma, and strabismus have been investigated, and the results are presented.

摘要

自中国遗传学会眼科遗传学分会成立以来,我国对主要遗传性眼病的患病率及遗传方式进行了调查。我国许多地区已开展了遗传性眼病的大规模筛查,覆盖人群超过70万,全国共收集并分析了5000多个遗传性眼病家系。基于这些数据,对色盲、变性近视、视网膜色素变性、先天性上睑下垂、先天性小眼球、先天性白内障、先天性青光眼、Leber视神经萎缩、角膜营养不良、先天性眼球震颤、眼裂、先天性无虹膜、视网膜母细胞瘤、黄斑营养不良、单纯性近视、原发性青光眼和斜视的患病率及遗传方式进行了调查,并给出了结果。

相似文献

1
Prevalence and mode of inheritance of major genetic eye diseases in China.中国主要遗传性眼病的患病率及遗传方式。
J Med Genet. 1987 Oct;24(10):584-8. doi: 10.1136/jmg.24.10.584.
2
The frequency of genetic eye diseases in a genetic counseling center.
Genet Couns. 1995;6(4):329-42.
3
[Genetic counseling in eye diseases (author's transl)].
Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1973 Nov 6;188(4):307-21. doi: 10.1007/BF00412948.
4
[Genetic consultations in ophthalmology].
Ophthalmologica. 1969;158(5):521-40. doi: 10.1159/000305866.
5
An ophthalmic genetics clinic.眼科遗传学诊所。
Trans Ophthalmol Soc U K (1962). 1975;95(4):472-6.
6
Causes of blindness and visual impairment in urban and rural areas in Beijing: the Beijing Eye Study.北京城乡地区失明和视力损伤的病因:北京眼病研究
Ophthalmology. 2006 Jul;113(7):1134.e1-11. doi: 10.1016/j.ophtha.2006.01.035. Epub 2006 May 2.
7
Differential occurrence of mutations causative of eye diseases in the Chinese population.中国人群中致眼病突变的差异发生率。
Hum Mutat. 2002 Mar;19(3):189-208. doi: 10.1002/humu.10053.
8
Genetic eye research in Tasmania: a historical overview.塔斯马尼亚州的遗传眼病研究:历史概述。
Clin Exp Ophthalmol. 2012 Mar;40(2):205-10. doi: 10.1111/j.1442-9071.2011.02728.x. Epub 2011 Dec 23.
9
Childhood blindness in the West Bank and Gaza Strip: prevalence, aetiology and hereditary factors.约旦河西岸和加沙地带的儿童失明:患病率、病因及遗传因素
Eye (Lond). 1993;7 ( Pt 4):580-3. doi: 10.1038/eye.1993.126.
10
Genetics and counselling in ophthalmology.眼科遗传学与咨询
Aust J Ophthalmol. 1981 Feb;9(1):74-6.

引用本文的文献

1
Surgical treatment and levator muscle protein analysis of congenital ptosis in craniosynostosis: A case-control study.颅缝早闭症先天性上睑下垂的手术治疗及提上睑肌蛋白质分析:一项病例对照研究。
Medicine (Baltimore). 2025 Aug 22;104(34):e43938. doi: 10.1097/MD.0000000000043938.
2
A qualitative study of the family caregiver burden for caregivers of children with congenital cataracts from a social ecosystem theory perspective.从社会生态系统理论视角对先天性白内障患儿家庭照顾者照顾负担的质性研究
BMC Nurs. 2025 Jul 3;24(1):833. doi: 10.1186/s12912-025-03495-x.
3
FOXK2 in skeletal muscle development: a new pathogenic gene for congenital myopathy with ptosis.FOXK2在骨骼肌发育中的作用:一种导致先天性睑下垂性肌病的新致病基因。
EMBO Mol Med. 2025 May 23. doi: 10.1038/s44321-025-00247-x.
4
Longitudinal quantitative assessment of retinal crystalline deposits in bietti crystalline dystrophy.比埃蒂结晶状营养不良中视网膜结晶沉积物的纵向定量评估
BMC Ophthalmol. 2025 Mar 17;25(1):139. doi: 10.1186/s12886-025-03962-8.
5
Investigating Microperimetric Features in Bietti Crystalline Dystrophy Patients: A Cross-Sectional Longitudinal Study in a Large Cohort.调查 Bietti 结晶性营养不良患者的微视野特征:一项大型队列的横断面纵向研究。
Invest Ophthalmol Vis Sci. 2024 Nov 4;65(13):27. doi: 10.1167/iovs.65.13.27.
6
Evaluation of the Effect of Surgery on Psychosocial Function and Quality of Life in Children with Simple Congenital Ptosis and Their Parents.手术对单纯先天性上睑下垂患儿及其父母心理社会功能和生活质量影响的评估
Korean J Ophthalmol. 2024 Dec;38(6):450-460. doi: 10.3341/kjo.2024.0102. Epub 2024 Oct 22.
7
Visual Impairment in Women with Turner Syndrome-A 49-Year Literature Review.特纳综合征女性的视力损害——49年文献综述
J Clin Med. 2024 Sep 13;13(18):5451. doi: 10.3390/jcm13185451.
8
Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial.贝蒂氏结晶状角膜视网膜营养不良的基因替代疗法:一项开放标签、单臂探索性试验。
Signal Transduct Target Ther. 2024 Apr 24;9(1):95. doi: 10.1038/s41392-024-01806-3.
9
Trends in the Prevalence of Common Retinal and Optic Nerve Diseases in China: An Artificial Intelligence Based National Screening.中国常见视网膜和视神经疾病患病率的趋势:基于人工智能的全国性筛查。
Transl Vis Sci Technol. 2024 Apr 2;13(4):28. doi: 10.1167/tvst.13.4.28.
10
The role of Whitnall's ligament position in the success of levator resection surgery in congenital ptosis.Whitnall 韧带位置在先天性上睑下垂提肌切除术成功中的作用。
BMC Ophthalmol. 2023 Dec 5;23(1):494. doi: 10.1186/s12886-023-03238-z.

本文引用的文献

1
Genetic aspects of retinitis pigmentosa in China.中国视网膜色素变性的遗传学方面
Am J Med Genet. 1982 May;12(1):51-6. doi: 10.1002/ajmg.1320120107.
2
Twin study on myopia.
Chin Med J (Engl). 1981 Jan;94(1):51-5.
3
Recurrence risks for multifactorial inheritance.多因素遗传的复发风险
Am J Hum Genet. 1971 Nov;23(6):578-88.
4
Crystalline retinopathy.
Am J Ophthalmol. 1978 Jul;86(1):81-8. doi: 10.1016/0002-9394(78)90019-3.