GARM II: A Study on the Genetics of Age-related Maculopathy

Age-related macular degeneration (ARM) is a major cause of vision loss in the elderly. It is
thought that smoking and diet may contribute to the risk of developing the condition but it
is clear that heredity plays a major role. Variations in two genes, CFH and HTRA1/ARMS2, have
been found to strongly contribute to the risk of developing ARM, but there are additional
genes that influence a person's chances of having this condition and how they will progress
to vision loss. We are investigating these genetic variations that contribute to ARM so that
we can eventually understand the causes of this complex condition. We study the genetic
variations (SNPs) that are shared among ARM-affected individuals within families as well as
compare the frequencies of genetic variations in ARM-affected individuals with those in
unaffected persons who are matched in age, gender, and exposures. We are conducting studies
with the DNA from our previous cohort of research participants as well as developing a
prospective study of high-risk family members and their spouses to evaluate genetic risks and
presymptomatic retinal changes. Our long-term goals are to develop new preventive therapies
that can slow or halt the development of this disease and to be able to provide these
treatments to those who are at greatest risk before they experience vision-threatening
changes.

The goal of this study (GARM II) is to determine how the combination of genetic, dietary,
health and exposure factors such as light, diet, and smoking contributes to one's risk of
developing this condition. This is not a treatment study and does not involve any preventive
therapies or direct treatments of ARM. We aim to find some insights for future preventive
strategies through a group of people who are at a higher than normal risk for developing ARM
(because of their family history) and their partners who represent the risk in the general
population. Because ARM is a complex disease and is affected by many factors, we also want to
know how other medical conditions may be associated or not with this eye condition.

Participants will communicate with the research staff through a protected, HIPAA-compliant
and confidential website and use this website to complete a number of questionnaires during
the course of the study. For genetic analyses, the participants will mail in easily
self-collected saliva samples in special containers. Eye photographs and eye health records
are sent to the research center from local sources through the Internet. Individuals are not
expected to come to UCLA in order to participate.

https://jseiclinres.jsei.ucla.edu/garm/

Inclusion Criteria:

- Individuals should have an email account and access to the Internet in order to use
the website for this study. Individuals who are unfamiliar or physically challenged
with using computers may have another person assist them with reviewing messages,
questions and entering information and making inquiries.

- ARM at-risk individuals between the ages of 49 to 65 years old who have at least one
parent either deceased or alive with diagnosis of macular degeneration. This group
includes the "third generation children" of our original GARM study.

- Individuals between the ages of 49 to 65 years old who are either a spouse or partner
of an ARM at-risk adult (those individuals described above with a parent diagnosed
with ARM).

- Individuals who have vision loss from ARM and a known family history of ARM (at least
a brother, sister, or a parent). These individuals should have at least one at-risk
child between the ages of 49 to 65 years old who is willing to participate in this
study.

Exclusion Criteria:

- Inability to give informed consent. Adaptations will be provided to allow those who
are unable to read because of vision loss to participate in the informed consent
process.(Proxy)

- For the at risk individuals and their spouses/partners, they will be excluded if they
do not have access and the ability to use a computer that is connected to the
Internet.