RetGen

The discovery of the gene came about through the team's efforts to map the genes of 612 families affected by ARM and an additional 323 individuals without a history of macular degeneration. Pooling data from a number of gene mapping studies, researchers were able to identify multiple locations on the chromosomes where there are common gene variants among people with ARM. Specifically, researchers found that a region on one of these chromosomes, chromosome 10, was the one most likely to contain a major gene that influences the risk of ARM. Further analysis of chromosome 10 found that a variation in PLEKHA1 to be strongly associated with a person's risk of developing ARM.
'Gene's discovery could help prevent a leading cause of blindness in the elderly', University of Pittsburgh press release at EurekAlert, 21 August 2005.

"... the team captured convincing and dramatic evidence that melanin protects the retinal cells. In the Proceedings of the National Academy of Sciences paper, published Wednesday, June 21, they show that increased melanin aggregation and radical migration within melanin aggregates can protect RPE cells from free-radical damage and help prevent cell death. In the Journal of the American Chemical Society paper, published Wednesday, Aug. 17, they demonstrate how melanin actually scavenges the harmful free radicals produced by high-energy blue or ultraviolet light as it flows into the eye, soaking them up and neutralizing their effects."
'After merging resources, chemist, retina surgeon see melanin?s value in new light', The University of Chicago Chronicle, 18 August 2005.

"It's one of those things where people say why not just give them a cane or a device that allows them some sort of function, but the point to make is that the sensation of seeing again is so pleasurable that even if you were able to give them a lot of functionality, but they were not able to see, it would leave them with an empty feeling."
Dr Mark Humayun, R&D Magazine?s 2005 Innovator of the Year
'Bringing Sight to the Blind', R & D Magazine, August 2005.

Roisum started to notice it was harder for his eyes to adjust to the darkened boiler rooms in which he usually worked. He also was losing pencils or tools he knew he had set down right in front of him. There were a few embarrassing moments, such as when he mistook a woman's belly for an elevator button.
'Out of the darkness' Star Tribune. 10 August 2005).

UF researchers injected a healthy version of the human RS1 gene to the sub-retinal space of the right eyes of 15-day-old male mice, which, like boys with the disease, don't have the healthy gene to maintain the retina. In terms of disease development, the condition in the mice was roughly equivalent to retinoschisis in a 10-year-old boy.

Six months later, researchers looked at the interior of the eyes with a laser ophthalmoscope and found cyst formation was clearly evident in the untreated eyes, but the treated eyes appeared healthy. The eye's photoreceptor cells - the rods and cones that help the brain process light and color - were spared from the disease and the connections between the layers of the retinas were intact.

In addition, the protein appears capable of moving within the retina to its target sites and the beneficial changes appear to be long lasting, researchers said. Especially encouraging were signs the treatment may be able to repair retinal damage.
'Gene therapy works in mice to prevent blindness that strikes boys,' University of Florida media release at EurekAlert, 2 August 2005.