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Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia
Nearsightedness (myopia) is a global health problem of staggering proportions that has driven the hunt for environmental and genetic risk factors in hopes of gaining insight into the underlying mechanism and providing new avenues of intervention. Myopia is the dominant risk factor for leading causes...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222437/ https://www.ncbi.nlm.nih.gov/pubmed/35741704 http://dx.doi.org/10.3390/genes13060942 |
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author | Neitz, Maureen Wagner-Schuman, Melissa Rowlan, Jessica S. Kuchenbecker, James A. Neitz, Jay |
author_facet | Neitz, Maureen Wagner-Schuman, Melissa Rowlan, Jessica S. Kuchenbecker, James A. Neitz, Jay |
author_sort | Neitz, Maureen |
collection | PubMed |
description | Nearsightedness (myopia) is a global health problem of staggering proportions that has driven the hunt for environmental and genetic risk factors in hopes of gaining insight into the underlying mechanism and providing new avenues of intervention. Myopia is the dominant risk factor for leading causes of blindness, including myopic maculopathy and retinal detachment. The fundamental defect in myopia—an excessively elongated eyeball—causes blurry distance vision that is correctable with lenses or surgery, but the risk of blindness remains. Haplotypes of the long-wavelength and middle-wavelength cone opsin genes (OPN1LW and OPN1MW, respectively) that exhibit profound exon-3 skipping during pre-messenger RNA splicing are associated with high myopia. Cone photoreceptors expressing these haplotypes are nearly devoid of photopigment. Conversely, cones in the same retina that express non-skipping haplotypes are relatively full of photopigment. We hypothesized that abnormal contrast signals arising from adjacent cones differing in photopigment content stimulate axial elongation, and spectacles that reduce contrast may significantly slow myopia progression. We tested for an association between spherical equivalent refraction and OPN1LW haplotype in males of European ancestry as determined by long-distance PCR and Sanger sequencing and identified OPN1LW exon 3 haplotypes that increase the risk of common myopia. We also evaluated the effects of contrast-reducing spectacles lenses on myopia progression in children. The work presented here provides new insight into the cause and prevention of myopia progression. |
format | Online Article Text |
id | pubmed-9222437 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-92224372022-06-24 Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia Neitz, Maureen Wagner-Schuman, Melissa Rowlan, Jessica S. Kuchenbecker, James A. Neitz, Jay Genes (Basel) Article Nearsightedness (myopia) is a global health problem of staggering proportions that has driven the hunt for environmental and genetic risk factors in hopes of gaining insight into the underlying mechanism and providing new avenues of intervention. Myopia is the dominant risk factor for leading causes of blindness, including myopic maculopathy and retinal detachment. The fundamental defect in myopia—an excessively elongated eyeball—causes blurry distance vision that is correctable with lenses or surgery, but the risk of blindness remains. Haplotypes of the long-wavelength and middle-wavelength cone opsin genes (OPN1LW and OPN1MW, respectively) that exhibit profound exon-3 skipping during pre-messenger RNA splicing are associated with high myopia. Cone photoreceptors expressing these haplotypes are nearly devoid of photopigment. Conversely, cones in the same retina that express non-skipping haplotypes are relatively full of photopigment. We hypothesized that abnormal contrast signals arising from adjacent cones differing in photopigment content stimulate axial elongation, and spectacles that reduce contrast may significantly slow myopia progression. We tested for an association between spherical equivalent refraction and OPN1LW haplotype in males of European ancestry as determined by long-distance PCR and Sanger sequencing and identified OPN1LW exon 3 haplotypes that increase the risk of common myopia. We also evaluated the effects of contrast-reducing spectacles lenses on myopia progression in children. The work presented here provides new insight into the cause and prevention of myopia progression. MDPI 2022-05-25 /pmc/articles/PMC9222437/ /pubmed/35741704 http://dx.doi.org/10.3390/genes13060942 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Neitz, Maureen Wagner-Schuman, Melissa Rowlan, Jessica S. Kuchenbecker, James A. Neitz, Jay Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia |
title | Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia |
title_full | Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia |
title_fullStr | Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia |
title_full_unstemmed | Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia |
title_short | Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia |
title_sort | insight from opn1lw gene haplotypes into the cause and prevention of myopia |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222437/ https://www.ncbi.nlm.nih.gov/pubmed/35741704 http://dx.doi.org/10.3390/genes13060942 |
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