Abstract

Background: To aim of the study was describe the growth of publications on genetic myopia and understand the current research landscape through the analysis of citation networks, as well as determining the different research areas and the most cited publications. Methods: The Web of Science database was used to perform the publication search, looking for the terms “genetic*” AND “myopia” within the period between 2009 and October 2020. The CitNetExplorer and CiteSpace software were then used to conduct the publication analysis. To obtain the graphics, the VOSviewer software was used. Results: A total of 721 publications were found with 2999 citations generated within the network. The year 2019 was singled out as a “key year”, taking into account the number of publications that emerged in that year and given that in 2019, 200 loci associated with refractive errors and myopia were found, which is considered to be great progress. The most widely cited publication was “Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia”, an article by Verhoeven et al., which was published in 2013. By using the clustering function, we were able to establish three groups that encompassed the different research areas within this field: heritability rate of myopia and its possible association with environmental factors, retinal syndromes associated with myopia and the genetic factors that control and influence axial growth of the eye. Conclusions: The citation network offers a comprehensive and objective analysis of the main papers that address genetic myopia.

Highlights

  • Myopia is the leading cause of visual impairment worldwide and there are both genetic and environmental factors that contribute to its development [1]

  • We used the Web of Science (WoS) database to conduct our search, establishing the following search terms: “myopia” and “genetic.” We selected these terms as they are the two most frequently used terms in all of the fields of research, meaning that they were in line with the objectives of this study

  • The search term that was employed was: “genetic*” AND “myopia.” the search was conducted by choosing the Subject as the search field, before going on to limit the results according to the abstract, keywords and title

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Summary

Introduction

Myopia is the leading cause of visual impairment worldwide and there are both genetic and environmental factors that contribute to its development [1]. Efforts to decipher the hereditary determinants of myopia began in the 1960s, and these were carried out in studies of monozygotic twins These studies demonstrated that myopia is hereditary, with a rate of 91%, and that genes explain up to 80% of the variances that exist in terms of refractive error [2,3,4,5]. Until the advent of genome-wide association studies (GWAS), studies using linkage analysis in families or investigating variants in candidate genes were conducted to identify disease-associated genes. They were not successful in myopia, and until 2009, there were no genes known for common myopia that occur in the general population.

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