Investigating Age-Related Macular Degeneration
| Status: | Completed |
|---|---|
| Conditions: | Ocular |
| Therapuetic Areas: | Ophthalmology |
| Healthy: | No |
| Age Range: | 50 - Any |
| Updated: | 4/21/2016 |
| Start Date: | June 2003 |
| End Date: | April 2012 |
Age-Related Macular Degeneration: A Genetic Epidemiology Study in the Amish
Age-related macular degeneration (ARMD) affects older Americans and can lead to irreversible
blindness. Although the cause if ARMD is unclear, it appears to be a condition that is
affected by both genetic and environmental influences.
The purpose of this study is to examine an Amish community to investigate genetic factors in
the development of ARMD.
Study participants will be 1,000 members, ages 50 and older, of the Old Order Amish
community in Lancaster and Franklin counties in Pennsylvania. Each will undergo a 30-minute
dilated eye exam during which an ophthalmologist or optometrist will take digital images of
the macula and optic disc. Depending on the results of their eye exam, participants may be
asked to give a blood sample as well. They will also complete a brief questionnaire about
personal exposure related to occupation, sunlight and smoking.
blindness. Although the cause if ARMD is unclear, it appears to be a condition that is
affected by both genetic and environmental influences.
The purpose of this study is to examine an Amish community to investigate genetic factors in
the development of ARMD.
Study participants will be 1,000 members, ages 50 and older, of the Old Order Amish
community in Lancaster and Franklin counties in Pennsylvania. Each will undergo a 30-minute
dilated eye exam during which an ophthalmologist or optometrist will take digital images of
the macula and optic disc. Depending on the results of their eye exam, participants may be
asked to give a blood sample as well. They will also complete a brief questionnaire about
personal exposure related to occupation, sunlight and smoking.
Age-related macular degeneration (AMD) is a leading cause of visual impairment in the United
States. Available evidence suggests that AMD is a complex disorder with a significant
genetic component as well as potential environmental influences. In this study we propose to
examine 3,000 members, ages 50 and older, of the Old Order Amish community in the Lancaster
and Franklin counties area in Pennsylvania. We plan to detail the epidemiology of AMD in
this population isolate in attempt to elucidate genetic factors which may confer
susceptibility and predispose some Amish individuals and their families to develop AMD. All
study participants agreeing to enroll and providing informed consent will undergo a
complete, dilated eye examination during which digital stereo images of the macula and optic
disc regions will be acquired. Study participants will also be asked to complete a brief
questionnaire inquiring about personal exposures related to occupation, sunlight, and
smoking. AMD will be determined by an independent reading of the digital fundus photographs
by the University of Wisconsin Fundus Photography Reading Center according to the AREDS AMD
classification scheme. We will employ standard statistical genetics methods of parametric
and non-parametric linkage analysis, association analysis, and transmission disequilibrium
tests, with allowances for environmental (i.e. non-genetic) factors to determine if we can
identify any candidate regions or candidate genes that predispose Amish individuals to an
increased risk of AMD. Ultimately, we hope to follow up any regions that show suggestive
evidence of linkage on the genome-wide scan with fine mapping in those regions, leading to
eventual cloning and sequencing of a gene or genes.
States. Available evidence suggests that AMD is a complex disorder with a significant
genetic component as well as potential environmental influences. In this study we propose to
examine 3,000 members, ages 50 and older, of the Old Order Amish community in the Lancaster
and Franklin counties area in Pennsylvania. We plan to detail the epidemiology of AMD in
this population isolate in attempt to elucidate genetic factors which may confer
susceptibility and predispose some Amish individuals and their families to develop AMD. All
study participants agreeing to enroll and providing informed consent will undergo a
complete, dilated eye examination during which digital stereo images of the macula and optic
disc regions will be acquired. Study participants will also be asked to complete a brief
questionnaire inquiring about personal exposures related to occupation, sunlight, and
smoking. AMD will be determined by an independent reading of the digital fundus photographs
by the University of Wisconsin Fundus Photography Reading Center according to the AREDS AMD
classification scheme. We will employ standard statistical genetics methods of parametric
and non-parametric linkage analysis, association analysis, and transmission disequilibrium
tests, with allowances for environmental (i.e. non-genetic) factors to determine if we can
identify any candidate regions or candidate genes that predispose Amish individuals to an
increased risk of AMD. Ultimately, we hope to follow up any regions that show suggestive
evidence of linkage on the genome-wide scan with fine mapping in those regions, leading to
eventual cloning and sequencing of a gene or genes.
- INCLUSION CRITERIA:
All Amish individuals, ages 50 and older, who either respond in the affirmative to the
letter of invitation or are self-referred to the Amish clinic for participation in the AMD
study, will be eligible.
EXCLUSION CRITERIA:
Individuals who decline participation, who are unwilling to sign the Consent Form, and who
are not recognized by the Amish as being Amish will be excluded.
There are no clinical inclusion/exclusion criteria.
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