《美国眼科杂志》眼遗传学贡献分册。

American Journal of Ophthalmology Contributions to Ophthalmic Genetics.

机构信息

Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Canada.

National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.

出版信息

Am J Ophthalmol. 2018 Jun;190:xvi-xxi. doi: 10.1016/j.ajo.2018.03.004. Epub 2018 Mar 9.

DOI:10.1016/j.ajo.2018.03.004

PMID:29530780

Abstract

PURPOSE

To review the contributions to ophthalmic genetics through the American Journal of Ophthalmology (AJO).

DESIGN

Perspective.

METHODS

A literature search to retrieve original articles, letters, editorials, and published lectures from 1966 to 2017, providing a 50-year review. Titles were excluded that gave no reference to genetics or that presented findings related to a nongenetic ocular condition.

RESULTS

From a search of the Scopus database, 719 articles were ascertained. Of these, 115 were excluded because the title did not reference a genetic condition or have a focus on genetic factors; 4 were excluded because they described animal phenotypes (1966-1967); and 4 were excluded owing to having received no citations up to and including 2015. The highest number of citations was 283 times for a single article on familial aggregation in age-related macular degeneration. The Web of Science database yielded 771 articles; of these, 118 were excluded owing to not reporting human genetic studies; 55 received no citations. The highest number of citations was 307 for a single article, a 1991 paper on Leber hereditary optic neuropathy.

CONCLUSIONS

The Journal's contributions to our understanding of the heritability of human ocular traits have been broad and deep, with international reach. The development of new techniques fostered new concepts and new approaches to rapidly expand the number of known single gene disorders with a defined molecular genetic cause. Reports on Mendelian and complex traits in the AJO abound, along with 6 Edward Jackson Memorial Lectures on retinal dystrophies, Leber congenital amaurosis, age-related macular degeneration, and glaucoma.

摘要

目的

通过《美国眼科杂志》（AJO）回顾眼科遗传学的贡献。

设计

观点。

方法

检索 1966 年至 2017 年的原始文章、信件、社论和已发表的演讲，进行文献回顾，提供 50 年的回顾。排除那些没有提到遗传学或提供与非遗传眼病相关发现的标题。

结果

从 Scopus 数据库中搜索到 719 篇文章。其中 115 篇被排除，因为标题没有提到遗传状况或关注遗传因素；4 篇被排除，因为它们描述了动物表型（1966-1967 年）；4 篇被排除，因为截至 2015 年，它们没有收到任何引用。一篇关于年龄相关性黄斑变性家族聚集的文章获得了 283 次引用。Web of Science 数据库收录了 771 篇文章；其中 118 篇因未报告人类遗传研究而被排除；55 篇没有被引用。一篇关于莱伯遗传性视神经病变的文章获得了 307 次引用，是引用次数最多的。

结论

该杂志对我们理解人类眼部特征遗传性的贡献广泛而深入，具有国际影响力。新技术的发展促进了新概念和新方法的出现，从而迅速增加了已知具有明确分子遗传原因的单一基因疾病的数量。AJO 上有大量关于孟德尔和复杂特征的报告，以及 6 次爱德华·杰克逊纪念视网膜营养不良、莱伯先天性黑矇、年龄相关性黄斑变性和青光眼讲座。