Transcript Leber’s Congenital Amaurosis

Leber’s Congenital Amaurosis
Presented by:
Beth Montgomery
Ashley Anders &
David Volk
What is Leber’s Congenital Amaurosis?
(LCA)
• LCA is a rare, inherited autosomal
recessive disorder caused by
abnormal photoreceptor cells.
HUH???
What in the world does that mean?
Let’s break this definition down!
First, LCA is rare because only about
one in 80,000 babies are born with
this disorder.
• Next, inherited means that LCA is present at birth
because it is passed on from parent to offspring.
• LCA can also present itself within the first few
months of life.
• LCA is not acquired, meaning does not show up at
later stages in life.
• Although it is not acquired, it is progressive. This
means it can and most likely will worsen over
time.
• Then there is the autosomal recessive disorder
part…
What? There’s more!
• That simply means that LCA is caused by 2
mutant (defective) genes.
• Both parents must carry the defective gene for
the child to be born with LCA.
• Finally, let’s take a look at what abnormal
photoreceptor cells are.
DO WE HAVE TO?
• The photoreceptor cells are the rods and
cones (the cells that detect light) of the retina.
• The rods and cones receive and process
signals of light and color, which gives us our
vision.
• So, a person with LCA usually has limited
vision or none at all.
Illustration of Rods and Cones in the
Retina
Characteristics of LCA
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Sluggish or no pupillary responses.
Nystagmus (involuntary eye movement).
Severe vision loss and/or blindness.
Habitual pressing on the eyes with fists or
fingers.
– Some sources state the pressing on the eyes is due
to pain and/ or extreme light sensitivity.
How is LCA treated?
• Currently, treatment for LCA is in the research
phase.
• One such treatment that is being researched is
retinal gene therapy.
• Retinal gene therapy is an experimental form of
treatment that aims to get rid of genetic
conditions at their source. Gene therapy may be
used to replace a faulty gene with a working
version or to introduce a new gene to cure a
condition or modify its effects.
Illustration of Retinal Gene Therapy
References
American Association for Pediatric Ophthalmologists. (2013). Leber’s
Congenital Amaurosis. Retrieved on July 16,2013, from
www.aapos.org
Better Health Channel. (May 2011) Gene Therapy. Retrieved on July 16, 2013,
from
http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Ge
ne_therapy
Foundation Fighting Blindness. (2012). Leber’s Congenital Amaurosis.
Retrieved on July 16, 2013, from www.blindness.org
Image of Retinal gene Therapy. (n.d.) Retrieved on July 16, 2013, from
http://proschool.weebly.com
Image of Rods and Cones. (n.d.). Retrieved on July 16,2013, from
http://starizona.com
The Foundation for Retinal Research. (2013). What is LCA?. Retrieved on July
16, 2013, from www.tfrr.org