The Role of GJD2(Cx36) in Refractive Error Development

Emilie van der Sande, Annechien E.G. Haarman, Wim H. Quint, Kirke C.D. Tadema, Magda A. Meester-Smoor, Maarten Kamermans, Chris I. de Zeeuw, Caroline C.W. Klaver, Beerend H.J. Winkelman, Adriana I. Iglesias*

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

3 Citations (Scopus)
42 Downloads (Pure)

Abstract

Refractive errors are common eye disorders characterized by a mismatch between the focal power of the eye and its axial length. An increased axial length is a common cause of the refractive error myopia (nearsightedness). The substantial increase in myopia prevalence over the last decades has raised public health concerns because myopia can lead to severe ocular complications later in life. Genomewide association studies (GWAS) have made considerable contributions to the understanding of the genetic architecture of refractive errors. Among the hundreds of genetic variants identified, common variants near the gap junction delta-2 (GJD2) gene have consistently been reported as one of the top hits. GJD2 encodes the connexin 36 (Cx36) protein, which forms gap junction channels and is highly expressed in the neural retina. In this review, we provide current evidence that links GJD2(Cx36) to the development of myopia. We summarize the gap junctional communication in the eye and the specific role of GJD2(Cx36) in retinal processing of visual signals. Finally, we discuss the pathways involving dopamine and gap junction phosphorylation and coupling as potential mechanisms that may explain the role of GJD2(Cx36) in refractive error development.

Original languageEnglish
Article number5
JournalInvestigative Ophthalmology and Visual Science
Volume63
Issue number3
DOIs
Publication statusPublished - Mar 2022

Bibliographical note

Funding Information:
Supported by the European Research Council (ERC) under the European Union’s Horizon 2020 Research and Innovation Programme (grant 648268), the Netherlands Organisation for Scientific Research (NWO; grant 91815655 to C.C.W. Klaver), UitZicht (project 2018-29) and Henkes Foundation.

Publisher Copyright:
© 2022 The Authors

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