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The association between L:M cone ratio, cone opsin genes and myopia susceptibility
In syndromic forms of myopia caused by long (L) to middle (M) wavelength (L/M) interchange mutations, erroneous contrast signals from ON-bipolar cells activated by cones with different levels of opsin expression are suggested to make the eye susceptible to increased growth. This susceptibility is mo...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7122956/ https://www.ncbi.nlm.nih.gov/pubmed/31254532 http://dx.doi.org/10.1016/j.visres.2019.06.006 |
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author | Hagen, Lene A. Arnegard, Solveig Kuchenbecker, James A. Gilson, Stuart J. Neitz, Maureen Neitz, Jay Baraas, Rigmor C. |
author_facet | Hagen, Lene A. Arnegard, Solveig Kuchenbecker, James A. Gilson, Stuart J. Neitz, Maureen Neitz, Jay Baraas, Rigmor C. |
author_sort | Hagen, Lene A. |
collection | PubMed |
description | In syndromic forms of myopia caused by long (L) to middle (M) wavelength (L/M) interchange mutations, erroneous contrast signals from ON-bipolar cells activated by cones with different levels of opsin expression are suggested to make the eye susceptible to increased growth. This susceptibility is modulated by the L:M cone ratio. Here, we examined L and M opsin genes, L:M cone ratios and their association with common refractive errors in a population with low myopia prevalence. Cycloplegic autorefraction and ocular biometry were obtained for Norwegian genetically-confirmed normal trichromats. L:M cone ratios were estimated from spectral sensitivity functions measured with full-field ERG, after adjusting for individual differences in the wavelength of peak absorption deduced from cone opsin genetics. Mean L:M cone ratios and the frequency of alanine at L opsin position 180 were higher in males than what has been reported in males in populations with high myopia prevalence. High L:M cone ratios in females were associated with lower degree of myopia, and myopia was more frequent in females who were heterozygous for L opsin exon 3 haplotypes than in those who were homozygous. The results suggest that the L:M cone ratio, combined with milder versions of L opsin gene polymorphisms, may play a role in common myopia. This may in part explain the low myopia prevalence in Norwegian adolescents and why myopia prevalence was higher in females who were heterozygous for the L opsin exon 3 haplotype, since females are twice as likely to have genetic polymorphisms carried on the X-chromosome. |
format | Online Article Text |
id | pubmed-7122956 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
record_format | MEDLINE/PubMed |
spelling | pubmed-71229562020-09-01 The association between L:M cone ratio, cone opsin genes and myopia susceptibility Hagen, Lene A. Arnegard, Solveig Kuchenbecker, James A. Gilson, Stuart J. Neitz, Maureen Neitz, Jay Baraas, Rigmor C. Vision Res Article In syndromic forms of myopia caused by long (L) to middle (M) wavelength (L/M) interchange mutations, erroneous contrast signals from ON-bipolar cells activated by cones with different levels of opsin expression are suggested to make the eye susceptible to increased growth. This susceptibility is modulated by the L:M cone ratio. Here, we examined L and M opsin genes, L:M cone ratios and their association with common refractive errors in a population with low myopia prevalence. Cycloplegic autorefraction and ocular biometry were obtained for Norwegian genetically-confirmed normal trichromats. L:M cone ratios were estimated from spectral sensitivity functions measured with full-field ERG, after adjusting for individual differences in the wavelength of peak absorption deduced from cone opsin genetics. Mean L:M cone ratios and the frequency of alanine at L opsin position 180 were higher in males than what has been reported in males in populations with high myopia prevalence. High L:M cone ratios in females were associated with lower degree of myopia, and myopia was more frequent in females who were heterozygous for L opsin exon 3 haplotypes than in those who were homozygous. The results suggest that the L:M cone ratio, combined with milder versions of L opsin gene polymorphisms, may play a role in common myopia. This may in part explain the low myopia prevalence in Norwegian adolescents and why myopia prevalence was higher in females who were heterozygous for the L opsin exon 3 haplotype, since females are twice as likely to have genetic polymorphisms carried on the X-chromosome. 2019-07-11 2019-09 /pmc/articles/PMC7122956/ /pubmed/31254532 http://dx.doi.org/10.1016/j.visres.2019.06.006 Text en https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/BY/4.0/ (https://creativecommons.org/licenses/by/4.0/) ). |
spellingShingle | Article Hagen, Lene A. Arnegard, Solveig Kuchenbecker, James A. Gilson, Stuart J. Neitz, Maureen Neitz, Jay Baraas, Rigmor C. The association between L:M cone ratio, cone opsin genes and myopia susceptibility |
title | The association between L:M cone ratio, cone opsin genes and myopia susceptibility |
title_full | The association between L:M cone ratio, cone opsin genes and myopia susceptibility |
title_fullStr | The association between L:M cone ratio, cone opsin genes and myopia susceptibility |
title_full_unstemmed | The association between L:M cone ratio, cone opsin genes and myopia susceptibility |
title_short | The association between L:M cone ratio, cone opsin genes and myopia susceptibility |
title_sort | association between l:m cone ratio, cone opsin genes and myopia susceptibility |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7122956/ https://www.ncbi.nlm.nih.gov/pubmed/31254532 http://dx.doi.org/10.1016/j.visres.2019.06.006 |
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