December 2013
Volume 13, Issue 15
Free
OSA Fall Vision Meeting Abstract  |   October 2013
Genetic variation affecting the relative activity of the L and M cones, its role in the cause and implications for the possible prevention of myopia
Author Notes
  • Footnotes
     Moderator:Earl Smith, University of Houston
  • Footnotes
     The prevalence of myopia is increasing rapidly worldwide. This session will explore recent work detailing the roles of optical, genetic and environmental cues in the development and progression of refractive errors. Speakers will also shed light on treatment strategies whose goals are to minimize or eliminate the development of myopia.
Journal of Vision October 2013, Vol.13, T25. doi:10.1167/13.15.25
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      Jay Neitz, Maureen Neitz; Genetic variation affecting the relative activity of the L and M cones, its role in the cause and implications for the possible prevention of myopia. Journal of Vision 2013;13(15):T25. doi: 10.1167/13.15.25.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

The major genetic and environmental factors responsible for myopia, its increasing incidence, and the mechanism through which each acts have been unknown. Insight into common disorders is sometimes gained from rare, more severe versions of the condition in which the understanding of mechanisms is more accessible. That has proven true for myopia. Mutations associated with common myopia were identified by following clues from the recent identification of photopigment gene mutations at MYP1, the first myopia locus ever mapped, as responsible for a syndromic form of myopia characterized by extraordinarily high refractive errors (often > −15 diopters). Subsequently we demonstrated that sequence variants of the same genes are a factor influencing the development of juvenile onset myopia. Thus, opsin gene mutations and exposure to non-adaptive visual stimuli contribute to a malfunction of emmetropization causing common juvenile onset myopia. These finding suggest that genetic testing may be useful in identifying children who are at the greatest risk of becoming myopic before they manifest any refractive error. Moreover, early detection combined with the use of contact or spectacle lenses designed to balance the relative activity of the cones, thereby helping to restore normal visually guided eye growth, may be useful in slowing the progression of myopia in children.

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