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Family Studies of Eye Traits

This study has been completed.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ) Identifier:
First received: June 19, 2006
Last updated: January 24, 2017
Last verified: June 23, 2016

This study will examine blood specimens from patients with various eye disorders who previously participated in the Beaver Dam Eye Study to try to identify genes responsible for these disorders. The Beaver Dam study was designed to determine the incidence and causes of age-related eye conditions, including cataract (changes in the lens of the eye that can impair vision); retinopathy (diseases of the retina - the thin layer of tissue that lines the back of the eye); age-related maculopathy (degeneration or atrophy of the macula - the center part of the retina responsible for fine vision); and impaired vision. Findings from this study and others have shown that age-related eye disorders often run in families, indicating a genetic component in their development.

All participants in the Beaver Dam study who had family members in the study may be included in the current NHGRI study. The Beaver Dam study included residents of the township of Beaver Dam, Wisconsin, who were between 45 and 84 years of age at enrollment. Participants had thorough eye examinations and blood samples drawn at baseline and 5 and 10 years after the baseline evaluation. Fifteen-year follow-ups will start in 2003.

This study will analyze data and blood samples previously collected from Beaver Dam study participants to identify genes related to numerous age-related visual traits. No new participants will be recruited.


Study Type: Observational
Study Design: Time Perspective: Other
Official Title: Family Studies of Ocular Traits

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 8000
Study Start Date: December 4, 2002
Detailed Description:

The Beaver Dam Eye Study was designed to determine the long-term incidence and causes of cataract, age-related maculopathy (ARM), retinopathy, and impaired vision. Age-related macular degeneration and cataract are leading causes of loss of vision in the United States. In Beaver Dam, preliminary analyses indicate that in those people who were 75+ years of age at the baseline examination, 72% developed nuclear cataract, 39% developed cortical cataract, 22% developed posterior subcapsular cataract (PSC); 37% developed early ARM (large soft indistinct drusen, retinal pigment epithelial (RPE) depigmentation, and increased retinal pigment); 10% developed signs of late ARM (exudative macular degeneration and geographic atrophy); 37% developed some impairment of vision; and 6% developed severely impaired vision by the 10-year follow-up. Thus, these are common problems in older persons. Because people 75 years of age and older are the most rapidly growing segment of the population with an estimated increase of over 60% in the next 25 years, these problems pose a societal burden due to the large number of older persons they will affect. Additionally, we have observed substantial familial aggregation for several of these traits: ARM, nuclear cataract, cortical cataract and ocular refraction. The primary goal of this proposal is to perform linkage analysis on data collected as part of the Beaver Dam eye study. NHGRI investigators will be involved in the analysis of coded data only. Dr. Bailey-Wilson may provide financial support to help cover the cost of DNA extraction from her budgets but NO samples will be sent to NHGRI. All NHGRI effort on this study will be funded through Dr. Bailey-Wilson s intramural budget.

In addition to the data from the Beaver Dam Eye study, we will also analyze previously existing data on glaucoma, intraocular pressure and cup-disc ratio from the Framingham Eye Study (FES) which is a substudy of the well known cohort study called the Framingham Heart Study (FHS). We will perform both linkage and association analysis of these data for comparison to the results found in the BDES data.


Ages Eligible for Study:   45 Years to 84 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

All individuals aged 45-84 years of age living in the township of Beaver Dam Wisconsin were invited to participate.

In the Framingham, cohort study, inclusion criteria were that the participants were residents of Framingham, MA or offspring of the original enrolless into the FHS.


None other than not meeting the Inclusion Criteria.

In the Framingham Eye Study, enrollees from the FHS who were deceased at the time of the FES exams (1970's) would not be able to enroll.

  Contacts and Locations
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Please refer to this study by its identifier: NCT00342342

United States, Maryland
Johns Hopkins University
Baltimore, Maryland, United States, 21205
National Human Genome Research Institute (NHGRI), 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
United States, Massachusetts
Boston University
Boston, Massachusetts, United States, 02118-2354
United States, Ohio
University Hospitals of Cleveland
Cleveland, Ohio, United States, 44106-2602
United States, Wisconsin
University of Wisconsin
Madison, Wisconsin, United States, 53792
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Principal Investigator: Joan Bailey-Wilson, Ph.D. National Human Genome Research Institute (NHGRI)
  More Information

Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT00342342     History of Changes
Other Study ID Numbers: 999903067
Study First Received: June 19, 2006
Last Updated: January 24, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):

Additional relevant MeSH terms:
Lens Diseases
Eye Diseases processed this record on April 21, 2017