Family Studies of Eye Traits

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.

- INCLUSION CRITERIA:

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.

EXCLUSION CRITERIA:

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.