by Kimberly Allen, RN
Recently I watched a video of a 4 year old boy that had been born with a rare disorder that affects vision. Unfortunately, rare disorders receive very little funding for research. It takes someone putting it out there on the Internet and starting fundraising on their own to find help.
The little boy that has touched many hearts. Gavin Stevens, was born with Lebers congenital amaurosis or LCA. LCA is an autosomal recessive disorder meaning you must receive a mutated gene from each parent. Most parents have no idea they are carriers and there is currently no way to determine if you are a carrier for LCA prior to a child being born with the disease. Currently there are 14 different genes that have mutations that can cause LCA that have been discovered by scientists. Approximately 75% of all LCA cases are caused by these 14 gene mutations. Armed with this information scientists are better able to move forward in developing effective treatments as well as preventative measures.
So what is LCA? LCA is a condition in which the photoreceptor’s in the back of the eye are damaged. There are 2 types of photoreceptor’s in your eye, the “rods” and “cones”. Each type of photoreceptor is responsible for interpreting different signals. The ‘rods’ are responsible for ‘seeing’ things that move, things in the dark as well as things in less detail. They also only see in black and white. While ‘cones’ are responsible for ‘seeing’ things that are still, things during daylight and in fine detail as well as they ‘see’ things in color. In a person with LCA the photoreceptor’s either do not function at all from the time they are born or they gradually stop working over time. When a child is born with the photoreceptor’s not functioning it is called “rod-cone dystrophy”.
Children born with LCA will either be blind at birth or have severely impaired vision that gets progressively worse as he/she gets older. Children born with LCA will also develop involuntary eye movements like ‘roving’ or jerking, some have these involuntary movements at birth. Another symptom that parents will notice is that children with LCA press on their eyes with their fists and/or fingers, which can lead to other problems. In the video of little Gavin Stevens he is wearing glasses. His mother has said they are strictly for protection to prevent Gavin from pressing and rubbing his eyes. When children press on their eyes it can cause the corneas to become thin and misshapen as well as the appearance of sunken eyes and cataracts.
Though there is no treatment for LCA armed with the knowledge that there are specific genes responsible for LCA scientists are working on different treatments including gene replacement therapy. There are clinical trials currently in progress at several hospitals in the US. These studies are showing immense promise. In one study the therapy being used gave 60 dogs with LCA sight.
Whether or not your child participates in a study or not he/she will benefit from orientation and mobility training as well as adaptive training skills. Having a child diagnosed with LCA is devastating to any parent and tends to be very stressful. There are support groups available that can help you to cope with the stresses that you will encounter as well as help you find information on research and any treatments available.
Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to HealthAndFitnessTalk.com, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at firstname.lastname@example.org.