The association between L:M cone ratio, cone opsin genes and myopia susceptibility.
Adolescent
Biometry
Color Vision
/ physiology
Cone Opsins
/ genetics
Electroretinography
Female
Genetic Predisposition to Disease
Humans
Male
Myopia
/ genetics
Norway
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Refraction, Ocular
/ physiology
Retina
/ physiopathology
Retinal Cone Photoreceptor Cells
/ pathology
Young Adult
Color vision
Cone opsin genetics
L:M cone ratio
Myopia
Myopia susceptibility
Journal
Vision research
ISSN: 1878-5646
Titre abrégé: Vision Res
Pays: England
ID NLM: 0417402
Informations de publication
Date de publication:
09 2019
09 2019
Historique:
received:
10
04
2019
revised:
12
06
2019
accepted:
13
06
2019
pubmed:
30
6
2019
medline:
23
5
2020
entrez:
30
6
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31254532
pii: S0042-6989(19)30127-0
doi: 10.1016/j.visres.2019.06.006
pmc: PMC7122956
mid: NIHMS1554499
pii:
doi:
Substances chimiques
Cone Opsins
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
20-28Subventions
Organisme : NEI NIH HHS
ID : P30 EY001730
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY028118
Pays : United States
Informations de copyright
Copyright © 2019 Elsevier Ltd. All rights reserved.
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