A word you may have never heard of, a word
we know all too well. When a parent hears this
word, it is followed by the phrase, ÒYour son is
going blindÓ. To a teenage boy, hearing this
word means he can forget about driving a car
or serving his country in the military. His career
choices will be strictly limited due to the loss of
With recent advances in genetic therapy
studies, we are very close to a cure for this
disease! With a cure for CHM, researchers say
it may open doors to cures and treatments for
other retinal degenerative diseases such as
With your donation, you are pushing this
ground breaking research forward. With your
donation, a mother may not have to watch her
son go blind!
CHM is a rare inherited disorder that causes
progressive loss of sight. It is caused by a
specific genetic defect that leads to
degeneration of cells in the eye that are
essential to sight.
Who gets Choroideremia?
CHM is genetically passed through families by
an X-linked genetic defect. Because of this only
males have loss of sight. Fathers will not pass
the gene to his sons, but his daughters will be
carriers. Mothers can be carriers and have a
50% chance of passing the disorder to their
sons, who will suffer sight loss, or to their
daughters who will be carriers.
Progression varies among individuals but
typically loss of ability to drive occurs in the
twenties, legal blindness in the thirties,
significant loss of peripheral sight and
dependence on mobility aids in the forties,
functional blindness in the fifties and total
blindness in the sixties.
About 7,000 males in the United States are
affected by CHM. Over two million people in
the US are affected by more common genetic
retinal degenerative disorders such as macular
degeneration and retinitis pigmentosa with
over forty-five million people affected
Thank you for learning about our cause!
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Is there a treatment for Choroideremia?
Not yet, but we are very close. With adequate
funding human trials could begin in 2011.
Scientists have discovered the exact location of
the defective CHM gene on the X. Researchers
say CHM is an ideal target for research because
there is only one form of CHM (a single genetic
defect). Currently research is underway with
funding from the Choroideremia Research
Foundation and others to develop a treatment.
Pre-clinical trial work is underway at the
University of Pennsylvania Scheie Eye Institute
under the direction of Dr. Jean Bennett and the
Royal College of London under the direction of
Dr. Miguel Seabra. Dr. Ian MacDonald with the
University of Alberta developed the genetic
test for CHM and has been key in the ongoing
research for a cure.
In 2009 Dr. BennettÕs work using an identical
method of treatment for another genetic eye
disorder, LeberÕsCongenital Amaurosis, made
international news and resulted in significant
vision improvement for the study participants
who were near or totally blind.
Who else may benefit from this research?
A successful treatment for CHM is considered
as a stepping stone to treatments for more
common genetic retinal disorders such as
macular degeneration and retinitis pigmentosa.
This research will also advance the knowledge
needed for treatment of a variety of other
common genetic disorders.
Want to learn more?
If you would like to learn more about our work,
please visit our website at www.curechm.org.
You may also contact us for more information
or if you would like for someone to speak to
your group.nut rice