Leber’s Congenital Amaurosis

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Presentation transcript:

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 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