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Sponsored by: |
National Human Genome Research Institute (NHGRI) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00341549 |
This study will try to identify the gene or genes responsible for myopia (nearsightedness) and to examine the relationship between myopia and near work. Myopia is the most common eye disorder in the world, affecting one in four Americans. Several studies indicate that myopia is inherited. The condition tends to cluster in families, so that studying families with this condition may facilitate finding the exact cause.
Caucasian Americans and African Americans with myopia who are in general good health may be eligible for this study. People with a family history of myopia through several generations along one parent's side only, and in which more than one sibling has myopia are preferred. People who have severe diseases that involve myopia, such as Stickler's or Marfan syndromes, retinitis pigmentosa or diabetic retinopathy may not participate.
Participants will undergo the following tests and procedures:
Condition |
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Myopia |
Study Type: | Observational |
Official Title: | Family Myopia Study |
Estimated Enrollment: | 10000 |
Study Start Date: | April 2002 |
Myopia or nearsightedness, a condition that results in the inability to see distant objects clearly, affects one in four Americans and is the most common eye disorder in the world with an enormous public health and economic impact. Depending on epidemiologic definition, 3-19% of acquired blindness has been ascribed to myopia. Considerable evidence suggests that myopia is a complex disorder mediated by both genetic mechanisms and environmental influences. Genetic epidemiological analyses in various populations have consistently yielded high heritability estimates (greater than 50%) for ocular refraction phenotypes. Since myopia tends to cluster in families, studying families with myopia affords the opportunity to identify genes responsible for the pathogenesis of myopia. These genes could provide molecular tools for investigating inherited myopia and refractive error and may help elucidate the mechanisms by which environmental and behavioral factors influence the progression of myopia. The goal of this proposal is to identify regions of the human genome that contain the genes responsible for non-syndromic myopia utilizing pedigrees identified by the Myopia Family Study (MFS) and genotypes generated by Dr. Dwight Stambolian's laboratory at the University of Pennsylvania as well as by the Center for Inherited Disease Research. Pedigree collection is ongoing in several geographic regions including Lakewood, NJ, for the collection of Orthodox Jewish families; Lancaster County, PA for the collection of Amish families; and Philadelphia, for recruitment of families of African American, Caucasian and Chinese ethnicities. All data collection is directed by Dr. Stambolian and funded by his grant from the NEI; no NHGRI funds are being used for data collection, and NHGRI investigators have no contact with study subjects. In addition to the MFS data, we will analyze existing data on myopia, hyperopia and ocular refraction from the Framingham Eye Study (FES) which is a substudy of the well-known Framingham Heart Study (FHS). We will perform both linkage and association analyses of these data for comparison to the results found in the MFS datasets. Because myopia is a complex disorder that is likely to be caused by multiple loci, multiple parametric and non-parametric methods of analyses will be employed. Heterogeneity will be taken into account during these analyses, as will environmental covariates, such as the effect of near work, when possible.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
The subject population will be adult individuals and their children, in good health with the exception of myopia.
Subjects will be chosen based upon vision history of their extended family.
Preferred subjects will be those who have a family in which myopia passes through several generations along one parent's side only, in which more than one sibling is affected with myopia, but in which no more than one parent is affected.
Specific eligibility requirements for the index case include:
Some of these bilineal families may be collected if necessary to achieve the desired sample size, but unilateral families are preferred.
EXCLUSION CRITERIA:
Excluded from the University of Pennsylvania study are those who have severe diseases that involve myopia, such as Stickler's or Marfan syndromes, ocular disease such as Retinitis Pigmentosa, and those with diseases that may secondarily cause myopia such as diabetes or retinopathy of prematurity. Records of eye examinations obtained prior to the onset of systemic or ocular disease will be accepted.
Individuals who complete the Risk Factor Questionnaire and who state that they were born more than a month prematurely will not be included in the study.
Individuals who are myopic in one eye and unaffected in the other (ulnilateral myopes) will not be included in the study.
Individuals who do not sign the Consent Form will be excluded, and families for whom all necessary members do not sign the Consent Form will be excluded.
No fetuses, pregnant women, prisoners or other institutionalized individuals will be enrolled.
Generally, myopia itself is not associated with mental impairment, although careful consideration will be given to determining the cognitive understanding of any such potentially impaired person appropriate for enrollment in order to assure that protection of human rights is optimized.
United States, Massachusetts | |
Boston University | |
Boston, Massachusetts, United States, 02118-2354 | |
United States, Pennsylvania | |
University of Pennsylvania | |
Philadelphia, Pennsylvania, United States, 19104-6056 | |
Pennsylvania College of Optometry | |
Philadelphia, Pennsylvania, United States, 19141 |
Study ID Numbers: | 999902191, 02-HG-N191 |
Study First Received: | June 19, 2006 |
Last Updated: | September 19, 2008 |
ClinicalTrials.gov Identifier: | NCT00341549 |
Health Authority: | United States: Federal Government |
Linkage Genetics Mapping Gene Susceptibility |
Myopia Nearsightedness Refraction Eye |
Disease Susceptibility Eye Diseases Genetic Predisposition to Disease Myopia Refractive Errors |