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EYE
BIRTH DEFECTS AND PEDIATRIC
CORNEAL TRANSPLANTATION
The cornea is the window of the eye. Light travels through the cornea
to the retina, which sends impulses to the brain, allowing vision
to develop. Visual development takes place until age eight and then
stops. If the cornea is cloudy, which can be caused by an eye birth
defect, light cannot reach the retina and impulses cannot reach the
brain, resulting in loss of vision. The child becomes permanently
blind. Every year, millions of children throughout the world are born
with eye birth defects that cause cloudy corneas, resulting in permanent
blindness because of lack of medical care.
CAUSES
Some of the diseases that can cause genetic eye defects include:
Peter’s Anomaly: a developmental defect in the
structures of the eye characterized by corneal clouding and sometimes
adhesions of the iris, lens, and cornea; often accompanied by other
defects such as dwarfism and mental retardation.
Hereditary Endothelial and Stromal Dystrophy:
In this condition the bottom layer of the cornea, which pumps water
out of the cornea to keep it dehydrated, is defective and the cornea
swells and becomes cloudy.
Fraser’s Syndrome: a rare developmental anomaly
in which the skin is continuous over the eyeball without any indication
of the formation of eyelids.
www.whonamedit.com/synd.cfm/2010.html
Congenital Glaucoma: present at birth or occurring
with 3–4 years of age; glaucoma is a group of eye diseases characterized
by an increase in pressure within the eye that causes defects in the
field of vision.
Mucopolysaccharidoses: a rare metabolic disorder
involving a specific enzyme deficiency, which can affect the eyes
and cause clouding of the cornea.
Mucolipidoses: an autosomal recessive disorder characterized
by psychomotor retardation and severe visual impairment; causes clouding
of the cornea in infancy or childhood. www.ninds.nih.gov/disorders/mucolipidoses/mucolipidoses.htm
Corneal Dermoids: benign tumors in which there is
growth of normal tissues in abnormal places.
CORNEAL TRANSPLANTS
The only way presently known to prevent blindness in children with
these conditions is with a corneal transplant. As opposed to adult
corneal transplantation, which has a high success rate, transplantation
in children is quite complex, and it has a very low success rate.
The tissues of babies are very fragile, resulting in a larger inflammatory
response, which causes a much higher failure rate of transplanted
corneas. In most instances, the success rate is less than 10 percent;
in 5 percent of cases, the eyes are completely lost.
THE
ROLE OF THE EYE DEFECTS RESEARCH FOUNDATION
The primary goal of The Eye Defects Research Foundation is to prevent blindness in children through corneal transplant surgery and molecular genetic research. With generous support from the public our hope is to expand molecular genetic research efforts which will lead to a better understanding of the underlying causes of these eye birth defects so medical cures can be found to prevent these children from going blind.
THE INDIGENT CLINIC
Cedars-Sinai Medical Center has a special eye clinic for patients
without health insurance. This clinic provides eye care for patients
in need of a wide range of eye disease. It is also a teaching clinic
for our residents and fellows. Our foundation supports the salary
of the physicians who staff this clinic, undergo training and participate
in clinical research.
READING
TO BLIND CHILDREN PROGRAM
The foundation has instituted a program to stimulate and promote the
mental health of blind children. Once a month, a group of these children
are invited to our office and volunteers read to them. This program
has been very successful and is much appreciated by the parents. It
also provides a way to keep in touch with our patients to ensure they
know about future developments at the foundation.
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One of the children in our reading program is Triana
Cotera, who was born with sclero cornea, a rare genetic
disease that clouds the corneas of both eyes, resulting
in permanent blindness. Triana had several surgeries
at a major university, which resulted in the loss of
one of her eyes. When her mother consulted Dr. Rabinowitz
at the Foundation about the possibility of surgery on
her remaining eye, he suggested that since the eye was
functional and Triana could distinguish between light
and dark, they should wait for further research in order
to ensure that a cornea transplant would succeed. Doctors
at the Foundation are conducting state-of-the-art research
for children like Triana, in order to provide a surface
for a cornea transplant that will succeed.
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Another child in the reading program is Megan Bolton,
who was born with Fraser’s syndrome. Both of her eyelids
were fused closed, although the eyes under the lids
had some function. In a complex surgery, Dr. Rabinowitz
and his associates separated the lids from the corneas
so her eyes would look normal. However, it is impossible
to do a cornea transplant at this time because her tissue
would definitely reject the new corneas. We are actively
doing research to improve the surface of Megan’s eyes
so she will one day be able to receive cornea transplants.
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HOW RESEARCHERS WILL TRY
TO SOLVE THE PROBLEM OF BLINDNESS IN CHILDREN
With ongoing support, researchers at The Eye Defects Research Foundation hope
to restore sight to Triana and Megan, and to the many other children
awaiting cornea transplants. Our research goals include:
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Fully equip and staff two molecular genetics
laboratories dedicated to combating blinding eye disease in
children |
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Creation of an endowment to purchase equipment
and support the researchers |
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Creating of an endowment to support the staffing
needs of the Indigent Clinic |
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Establish a Clinical Eye Research Center |
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Expand our Reading to Blind Children Program |
We are extremely optimistic that this research will ultimately lead
to improving and restoring sight caused by these diseases. Support
from the public and private donor funding is needed to continue these
ongoing research efforts. If you are interested in participating or
would like to learn more about how you can become involved, please
contact us at: jnavratil@eyedefectsresearch.org
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Trephining
the cornea in a pediatric transplant
Cornea immediately after transplant with sutures in
Cornea transplant 1 year later with sutures out
Clear cornea 2 years after a transplant in a patient with mucopolysaccharidoses
Cornea showing pattern of sutures immediately after a transplant
in a patient with Peter’s Anomaly
Trephination
of a peripheral corneal dermoid
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