Page 94 - April 2015 Life In Naples Magazine
P. 94
BASCOM
PALMER
EYE INSTITUTE
dcaisucsoevserms accluuelas radbeoguetnewrhaatiton
by Jaclyn L. Kovach, MD hereditary component to AMD risk. Margaret
Pericak-Vance, PhD, director of the HIHG
W hat causes age-related macular who is the principal investigator for our current
degeneration (AMD)? Patients collaboration was one of the researchers who
pose this seemingly simple identified the first and most powerful genetic risk
question to me every day. For factor for AMD, complement factor H (CFH).
the past seven years, my colleague Dr. Stephen An abnormal CFH gene can lead to unregulated
G. Schwartz, MD, MBA and I at the Bascom inflammation in the retina and promote the
Palmer Eye Institute (BPEI) in Naples have development of AMD.
collaborated with geneticists at the John P.
Hussman Institute for Human Genomics Since 2010, Dr. Schwartz and I at BPEI and
(HIHG) at University of Miami Miller School the geneticists at HIHG have collaborated with
of Medicine to try to answer that very question. other well-known national and international
AMD researchers with the goal of identifying
As it turns out, the etiology of AMD is other genetic factors associated with AMD through an international group
complicated. There are many factors that called the AMDGene Consortium.Created by the National Institute of Health’s
increase an individual’s risk of developing National Eye Institute, the AMDGene Consortium has conducted a type of
this potentially blinding condition. Age is large research study call a genome wide-association study (GWAS) to identify
the most important risk factor, as AMD the genes associated with AMD. In 2013 the Consortium published a landmark
affects only patients over 50 years of age. A article identifying seven new genetic risk factors for AMD which to date brings
history of tobacco use, hypertension, and the total of known genetic AMD risk factors to 19 genetic loci. The more we
hypercholesterolemia (lifestyle factors) are also learn about the genetic abnormalities that play a role in the development of
believed to play a role, but genetics are thought AMD the closer we get to the prevention and better treatments for AMD.
to account for up to 80 percent of one’s AMD
risk. Age-related macular degeneration is a To date, this fruitful BPEI and HIHG collaboration has authored over 100
strongly inherited disease and is commonly peer-reviewed articles and national scientific meeting presentations that have
passed down through families. Genetic contributed to the current state of knowledge of AMD. This research would
risk factors interact with lifestyle factors to not be possible without the help of over 1,000 of our Naples patients who have
determine one’s risk of developing AMD and so generously agreed to participate in this ongoing genetic research project for
how the condition progresses. AMD. For more information regarding our research at the Bascom Palmer Eye
Institute in Naples, please call 239.659.3937 and ask for Rosanny Larach, our
Prior to 2005, the genetic risk factors research coordinator.
for AMD were unknown. At that time,
we simply knew that there was a strong
94 Life in Naples | April 2015
