High Myopia Genetic Research Study

Making a Difference

What is myopia?

Myopia (nearsightedness) is the most common eye condition in the world.
It affects one in four people. Individuals with myopia have trouble seeing
far away without wearing glasses or contact lenses. Individuals with higher
degrees of myopia are at risk for developing more severe vision problems,
such as retinal detachment, central retinal bleeding, premature cataracts,
glaucoma and macular degeneration.

Why study families?

High myopia tends to be inherited in families. It is important to identify the genes that cause high myopia in order to develop therapies to prevent the long-term complications listed above. To find these genes, it is necessary to also include family members without high myopia.

You may be eligible for this research study if you:
• Had onset of myopia at 12 years of age or younger
• Have an eyeglass prescription of about -5 diopters or more as
an adult
• Have one or more family members with high myopia

What have we learned?

Our researchers have mapped and identified multiple genes for myopia, as well as other hereditary eye diseases. We have clarified the relationship of the MYP1 gene to color blindness and have found new genes that may affect eye development and progressive myopia. We are developing animal models of these findings in order to study changes in a living system that
may eventually help humans.

Our research efforts are funded by the National Eye Institute/National Institutes of Health, Macula Vision Research Foundation, Research to Prevent Blindness, Inc., and The Robert Wood Johnson Foundation.

The research study requires you to:
• Complete a short questionnaire, either in person or over the phone
• Provide a sample of DNA, either from a small blood or saliva sample

Qualified participants receive:
• A free eye examination

Terri L. Young, MD, MBA
Professor and Chair

Terri Young, MD, MBA, is the Peter A. Duehr Chair of the Department of Ophthalmology and Visual Sciences at the University of Wisconsin School of Medicine and Public Health. An internationally renowned physician-scientist, Dr. Young joined the Department in 2014. She was professor of ophthalmology, pediatrics and medicine at Duke University and founding director of the Duke Eye Center Ophthalmic Genetics Clinic and Research Program. She also held the titles of adjunct Professor of Neuroscience and Behavioral Disorders at the Duke-National University of Singapore Graduate Medical School.

With more than 185 published peer-reviewed papers, Dr. Young has built an impressive record of competitive grant funding as an investigator. Her research specializes in genetic studies of refractive errors, eye development and growth, primary congenital glaucoma and other inherited ocular disorders.

Contact us today If you are interested in joining the study, please contact study coordinator Angie Wealti, BS, CCRC, at wealti@ophth.wisc.edu or (608) 265-7557.



Myopia-related fundus changes in Singapore adults with high myopia. American Journal of Ophthalmology. 2013 Jun;155(6):991-999. PMID: 23499368

Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. American Journal of Human Genetics. 2013 May 2:92(5):820-6. PMID: 23643385.

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. American Journal of Human Genetics. 2013 Aug 8;93(2):264-77. PMID: 24144296.

Variations in opsin coding sequences cause X-linked cone dysfunction syndrome with myopia and dichromacy. Investigative Ophthalmology and Vision Science. 2013 Feb 15;54(2):1361-9. PMID: 23322568

Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR and PPFIA2. Investigative Ophthalmology and Vision Science. 2013 Mar 21;54(3):2076-86. PMID: 23422819.

Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models. Experimental Eye Research. 2013 Sep;114:141-9. PMID: 23379998.

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nature Genetics. 2013 Mar;45(3):314-8. PMID: 23396134.

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. Molecular Vision. 2013 Apr 5;19:759-66. PMID: 23592912.

Whole genome expression profiling of normal human fetal and adult ocular tissues. Experimental Eye Research. 2013 Nov; 116:265-278. PMID: 24016867.

Birth order and myopia. Ophthalmic Epidemiology. 2013 Dec;20(6):375-84. PMID: 24168726.

Scleral micro-RNA signatures in adult and fetal eyes. PLoS One. 2013 Oct 21;8(10):e78984. PMID:24205357.

Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts. JAMA Ophthalmology. 2013 Nov 21. PMID:24264139.

Myopia in young adults is inversely related to an objective marker of ocular sun exposure: The Western Australian Raine Cohort Study. Am J Ophthalmol. 2014 Jul 26. PMID: 25072831

What is the appropriate age cut-off for cycloplegia in refraction. Acta Ophthalmol. 2014 Sep;92(6):e458-62. PMID: 24641244