A Chance to Combat Childhood Blindness
One of the rare genetic eye diseases responsible for childhood
blindness is Leber congenital amaurosis, an inherited retinal degenerative
disorder. As a result, the infant is born with severely impaired
vision. The term "amaurosis" stands for partial or complete
loss of vision and "congenital" means that this eye condition
is present at birth. This is a very serious disease of the eye,
where light sensitive cells essential for vision degenerate so quickly
that vision can be lost in the very early years of a child's life.
Infants born with Leber congenital amaurosis have a jerking involuntary
eye movement called "nystagmus" and they are likely to
poke their eyes or press on them with their fists or fingers (oculo-digital
reflex) that can lead to a sunken appearance of the eyes. It is
also possible that they have vision at the level of seeing light
and dark or detecting motions. Occasionally this disease may be
confused with other retinal problems such as retinitis pigmentosa,
congenital and hereditary optic atrophy and others. Because of the
genetic link, members of the same family probably have the disease.
At the moment there is no specific treatment for Leber congenital
amaurosis. The only help is the use of low-vision aids and contact
lenses if they have enough vision.
Recent researches show that gene therapy could be a solution to
cure this eye condition. A number of gene mutations have been identified
as being associated with Leber congenital amaurosis. An enzyme has
been identified that could offer a way to cure inherited vision
disorders like Leber
congenital amaurosis. The gene is known as RPE65 and it activates
early chemical processes that are essential for the sensitivity
to light and for the formation of vision function. This gene was
known before, but nobody discovered the crucial role it played in
vision formation.
Gabriel Travis, ophthalmology and biochemistry professor played
an exclusive role in the researches. His experiments on mice and
dogs demonstrate that the gene replacement involving RPE65 could
be a solution to cure childhood blindness that is in many cases
related to Leber congenital amaurosis. This discovery might be a
significant step forward in seeking a cure for this particular cause
of childhood blindness and could, in the future, give hope to many
visually impaired children.
The researchers are now studying the causes of mutations in the
RPE65 gene, which should provide more data on the cause of Leber
congenital amaurosis and on how this respective gene works. The
researchers are also examining the function of other genes that
work closely with Rpe65 as the mutations in these could be linked
to other forms of human blindness.
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