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Retinitis
Pigmentosa
Retinitis pigmentosa (RP) is the name given
to a group of inherited eye diseases that affect the retina. Retinitis
pigmentosa causes the degeneration of photoreceptor cells in
the retina. Photoreceptor cells capture and process light helping us to
see. As these cells degenerate and die, patients experience progressive
vision loss.
Symptoms
The most common feature of all forms of retinitis
pigmentosa is a gradual degeneration of the rods and cones. Most forms
of RP first cause the degeneration of rod cells. These forms of RP, sometimes
called rod-cone dystrophy, usually begin with night blindness. Night blindness
is somewhat like the experience normally sighted individuals encounter
when entering a dark movie theatre on a bright, sunny day. However, patients
with retinitis
pigmentosa cannot adjust well to dark and dimly lit environments.
As the disease progresses and more rod cells degenerate, patients lose
their peripheral vision. Patients with retinitis
pigmentosa often experience a ring of vision loss in their mid-periphery
with small islands of vision in their very far periphery. Others report
the sensation of tunnel vision, as though they see the world through a
straw. Many patients with retinitis pigmentosa retain a small
degree of central vision throughout their life.
Other forms of retinitis
pigmentosa, sometimes called cone-rod dystrophy, first affect central
vision. Patients first experience a loss of central vision that cannot
be corrected with glasses or contact lenses. With the loss of cone cells
also comes disturbances in color perception. As the disease progresses,
rod cells degenerate causing night blindness and peripheral vision.
Symptoms of retinitis
pigmentosa are most often recognized in children, adolescents and
young adults, with progression of the disease continuing throughout the
individual’s life. The pattern and degree of visual loss are variable.
Related diseases
Other inherited diseases share some of the clinical symptoms
of retinitis
pigmentosa. Some of these conditions are complicated by other symptoms
besides loss of vision. The most common of these is Usher syndrome, which
causes both hearing and vision loss. Other rare syndromes that researchers
are studying with funding from The Foundation Fighting Blindness include
Bardet-Biedl (Laurence-Moon) syndrome, Best disease, choroideremia, gyrate-atrophy,
Leber congenital amaurosis, and Stargardt disease.
Retinitis
pigmentosa and related diseases are rare and difficult to accurately
diagnose. Only a specialist can properly distinguish between the subtle
clinical features of these diseases. Therefore, it is important that patients
who are symptomatic see an ophthalmologist who specializes in retinal
degenerative diseases.
Treatments
As yet, there is no known cure for retinitis
pigmentosa. However, intensive research is currently under way to
discover the cause, prevention, and treatment of retinitis pigmentosa.
At this time, retinitis pigmentosa researchers have identified
a first step in managing retinitis
pigmentosa. While not a cure, certain doses of vitamin A have been
found to slightly slow the progression of retinitis pigmentosa
in some individuals. An information packet on this research breakthrough
is available from The Foundation. Researchers have found some of the genes
that cause retinitis
pigmentosa. It is now possible, in some families with X-linked retinitis
pigmentosa or autosomal dominant retinitis
pigmentosa, to perform a test on genetic material from blood and other
cells to determine if members of an affected family have one of several
retinitis
pigmentosa genes.
For more information on retinitis pigmentosa, visit The Foundation Fighting Blindness at www.blindness.org.
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