American Journal of Ophthalmology Contributions to Ophthalmic Genetics.

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.

journal_name

Am J Ophthalmol

authors

MacDonald IM,Sieving PC

doi

10.1016/j.ajo.2018.03.004

subject

Has Abstract

pub_date

2018-06-01 00:00:00

pages

xvi-xxi

eissn

0002-9394

issn

1879-1891

pii

S0002-9394(18)30102-8

journal_volume

190

pub_type

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