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STARGARDT’S
DISEASE
WHAT IS STARGARDT’S
DISEASE?
Stargardt’s disease, also called juvenile macular
degeneration or fundus flavimaculatus), affects
approximately one in 10,000 people and is
characterized by central vision loss early in life.
This condition affects the retina, which forms a thin
membrane lining at the back of the eye. The retina
is light sensitive nerve tissue that converts images
from the environment received through the eye into
impulses sent to the brain.
In people with Stargardt’s disease, one layer of the
retina collects a substance called lipofuscin. This
causes discrete yellowish round or fish-shaped
flecks around the macula. As a result, vision loss
in Stargardt’s is most intense in the macula, which
is in the center of the retina and the concentration
of the most sensitive vision. Additionally, the best
color vision resides in the macula. Therefore,
damage to the macula results in loss of visual
acuity (definition and sharpness), decreased color
vision and blind spots.
SIGNS AND SYMPTOMS
Stargardt’s is a progressive disease which usually
shows up in children and young people within the
first 20 years of life.
A first sign of the disease may be trouble reading
or blind spots. Initially, the blind spot or blurriness
may be small but may gradually increase in size.
A person with the condition may have reduced
visual acuity, causing blurry vision. Most
Stargardt’s patients have visual acuities from
20/100 to 20/400 (In the U.S., 20/200 or worse is
considered legal blindness).
Central vision in those with the disease is typically
decreased but peripheral (side) vision usually
remains stable. In late stages, color may also be
affected.
PROMINENT YELLOW FLECKS AND
MACULAR CHANGES ( courtesy of
Common Macular Cases)
CAUSES AND TREATMENT
Stargardt’s is most often an autosomal recessive
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inherited condition
requiring
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person
to receive a
gene from each parent to cause the disease.
Recently, though, small number of families were
found to have an autosomal dominant pattern of
inheritance, requiring only one gene from either
parent. Researchers have identified the recessive
Stargardt disease is caused by mutations in a gene
called ABCA4. A second gene called ELOVL4 has
been found to be the cause of the dominant form of
the disease.
Unfortunately, there is no current treatment that
has been proven to improve the visual loss or to
slow the progressing of the disease.
The Foundation for Fighting Blindness and Oxford
Biomedical’s gene therapy treatment has been
given orphan drug status and clinical trials began in
late 2010. Additionally, Advanced Cell Technology
received a patent for producing RPE cells from
human embryonic stems cells and was granted
orphan drug status. ACT announced FDA approval
to begin clinical trials in November 2010.
Developed by Molly Beasley
STARGARDT’S
DISEASE (CONT).
IMPLICATIONS FOR STUDENTS
In students with Stargardt’s disease, it is important
to have adequate low vision care. Students may
have light and glare control problems in their
classrooms. Adaptations including sitting away
from the window or providing window coverings
may be necessary. Also, these students should be
allowed to wear “sunglasses” when needed to
decrease glare and light sensitivity.
Large print materials may be indicated for these
children. This may include textbooks, worksheets
and tests. Due to their vision loss and difficulty
reading, some students may require extended time
on tests and quizzes.
OVERALL PROGNOSIS
Stargardt’s never causes total vision loss.
Peripheral vision is left intact while central vision is
usually in the range of 20 /100 to 20/400 with
younger patients usually showing less loss. Low
vision care can help Stargart’s patients lead very
normal lives.
NORMAL VISION
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REFERENCES
American Macular Degeneration Foundation (n.d.). Stargardt
Disease. Retrieved June 19, 2011 from http://www.
macular.org/stargardts.html
Branham, K,, Heckenlively, J., and Openshaw, A. (2008, February).
Understanding Stargardt Disease. Retrieved June 19, 2011
from http://www.kellogg.umich.edu/ patientcare /
downloads/Understand-Stargardt.pdf
Common Macular Cases (n.d.). Stargardt’s Disease/Fundus
Flavimaculatus. Retrieved June 19, 2011 from
http://www.mrcophth.com/macula/stargardtdisease.html
Deutman, A.F., (2003, January). Orphanet Encylcopedia.
Stargardt’s Disease. Retrieved June 19, 2011 from
http://www.orpha.net/data/patho/GB/uk-Stargardt.pdf
Lighthouse International. (n.d.). Stargardt’s Disease. Retrieved
June 19, 2011 from http://www.lighthouse.org/about-lowvision-blindness/childrens-vision/pediatric-eye-disorders/
stargardts-disease/
LATE STAGES OF STARGARDT’S
(courtesy of National Eye Institute)
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Developed by Molly Beasley