1. The association between L:M cone ratio, cone opsin genes and myopia susceptibility
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Rigmor C. Baraas, Jay Neitz, Maureen Neitz, Lene Aarvelta Hagen, Stuart J. Gilson, James A. Kuchenbecker, and Solveig Arnegard
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Male ,Opsin ,Biometry ,Adolescent ,genetic structures ,Color vision ,Population ,Biology ,Refraction, Ocular ,Polymerase Chain Reaction ,Polymorphism, Single Nucleotide ,050105 experimental psychology ,Article ,Retina ,03 medical and health sciences ,Exon ,Young Adult ,0302 clinical medicine ,Myopia ,Electroretinography ,Humans ,0501 psychology and cognitive sciences ,Genetic Predisposition to Disease ,education ,Gene ,education.field_of_study ,Myopia susceptibility ,Color Vision ,Norway ,05 social sciences ,Haplotype ,Trichromacy ,Molecular biology ,Cone Opsins ,Sensory Systems ,eye diseases ,L:M cone ratio ,Ophthalmology ,Retinal Cone Photoreceptor Cells ,Female ,Cone opsin genetics ,sense organs ,Erg ,030217 neurology & neurosurgery - Abstract
Published by Elsevier Ltd. This is an open access article under the CC BY license. Elsevier Vision Research Volume 162, September 2019, Pages 20-28 Vision Research The association between L:M cone ratio, cone opsin genes and myopia susceptibility Author links open overlay panelLene A.HagenaSolveigArnegardaJames A.KuchenbeckerbStuart J.GilsonaMaureenNeitzbJayNeitzbRigmor C.Baraasa Show more https://doi.org/10.1016/j.visres.2019.06.006Get rights and content Under a Creative Commons licenseopen access Highlights • Low myopia prevalence in Norwegian adolescents. • High mean L:M cone ratio in both Norwegian males and females. • High L:M cone ratios in females were associated with lower degree of myopia. • Myopia was more frequent in females heterozygous for L opsin exon 3 haplotypes. • Milder versions of L exon 3 skipping variants may play a role in common myopia. Abstract 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.
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- 2019