Re: Stargardt's Disease

This information may come a little late... since the original poster posted in September... but here goes...



Stargardt's Disease is a genetic disorder where the patient's body cannot create a certain protien that transports "waste" out of the eye.
This "waste" is called lipofucins.

These lipofucins are by-products of Vitamin A...

A good overview of the disease can be found here:

http://www.mdsupport.org/library/stargrdt.html


"Stargardt disease is thought to be caused by the accumulation of lipofuscins (waste deposits) in the retina, due to the cells' inability to transport vitamin A from the retinal pigment epithelium (RPE) to the photoreceptor cells. This is a result of a buildup of A2E, a toxic by-product of Vitamin A that is normally released after light exposure during the visual cycle. Dark adaptation, therefore is delayed."


My son was diagnosed with Stargardt's disease around his 7th birthday. We had noticed that his reading ability was diminishing, and he was experiencing difficulty seeing. Initially, we thought maybe he needed glasses. But, after 3 visits to the pediatric opthamologist, they recommended that we see a retinal specialist.

We ended up at Columbia University Hospital, where they did a DNA test, and a fluorescein angiogram, both of which positively identified the disease. That was February 2006.
Today, his vision is at 20/200. He gets low-vision aids provided for him at school by the state, and he's adjusting better than we are.

There are a lot of resources that can be found in regards to Stargardt's disease at the Foundation Fighting Blindness. New research, new developments, recommendations.
---------------------------------------------


There have been some exciting developments in the treatment of Stargardt's disease.

A British company called Oxford Biomedica has taken the step forward to try and develope a "gene" therapy to cure Stargardt's Disease.

http://www.blindness.org/research.asp?id=289&type=5,%2018


While it's a few years off, and the damage to my son's eyes will be permanent by then, it sounds like a viable cure for future patients.