The Role of GJD2(Cx36) in Refractive Error Development

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...

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Published inInvestigative ophthalmology & visual science Vol. 63; no. 3; p. 5
Main Authors van der Sande, Emilie, Haarman, Annechien E G, Quint, Wim H, Tadema, Kirke C D, Meester-Smoor, Magda A, Kamermans, Maarten, De Zeeuw, Chris I, Klaver, Caroline C W, Winkelman, Beerend H J, Iglesias, Adriana I
Format Journal Article
LanguageEnglish
Published United States The Association for Research in Vision and Ophthalmology 09.03.2022
Subjects
Connexins - genetics
Connexins - metabolism
Gap Junction delta-2 Protein
Gap Junctions - metabolism
Humans
Myopia - genetics
Myopia - metabolism
Refractive Errors - genetics
Refractive Errors - metabolism
Retina - metabolism
Review
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Summary: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.
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AEGH and WHQ contributed equally to this work.
ISSN:1552-5783
0146-0404
1552-5783
DOI:10.1167/iovs.63.3.5