Gene Purdie has been suffering from Stargardt disease since the day he was born. This disorder affects retina – the tissue at the back of the eye that senses light. It causes vision loss during childhood or adolescence. Gene Purdie has a lovely wife and a 1 year old son, whom he has never fully seen. His wife wrote a letter to Rachael Ray Show, hoping for a miracle. And it did happen. Please, SHARE the wonderful moment partially-blind Gene sees his family for the first time.
Gotta love Technological progress!
It estimated that Stargardt disease affects 1 in 8-10 thousand people. It is a genetic disorder. When an affected parent with one dominant gene mutation has a child, there is a 1 in 2 chance that a child will inherit the disease. It is rare for people with Stargardt to become completely blind. Vision loss progresses slowly over time to 20/200 or worse (normal vision is 20/20).
A key role in Stargardt disease plays vitamin A, or to be more precise – its byproducts. As you might know, vitamin A plays a critical role in maintaining healthy vision, as well as neurological function. Eat more carrots! Vitamin A is needed to make key light-sensitive molecules inside photoreceptors. Unfortunately, this manufacturing process can lead to harmful vitamin A byproducts. There is a special gene named ABCA4, which normally clears away vitamin A byproducts inside photoreceptors. Mutations in this gene are a common cause of Stargardt disease. Cells that lack the ABCA4 protein accumulate clumps of lipofuscin, a fatty substance. As these clumps increase in and around the macula, central vision becomes impaired. Eventually, these fatty deposits lead to the death of photoreceptors, and vision becomes further impaired. Mutations in the ABCA4 gene are also associated with cone dystrophy, cone-rod dystrophy, and retinitis pigmentosa, a severe form of retinal degeneration.