A number of exciting research breakthroughs were announced on World Retina Day. The first more than justifies the international decision to incorporate Age-Related Macular Degeneration (AMD) into our work. The exciting announcement was made that a genetic mutation had been linked to AMD. In an American study, 26 out of the 167 AMD patients examined had a genetic mutation in the ABCR gene. It is this same gene which has been implicated in Stargardt Disease, a juvenile Macular Degeneration. This is the first gene which has been linked to AMD but probably not the last. The second announcement was the exciting news of 2 new genes associated with Recessive RP and a severe form of Childhood Retinopathy. Both genes produce a protein found in the Retinal Pigment Epithelium (RPE), the "nurse" layer of cells which lies underneath the photo receptor cells. It is in these light sensitive cells (rods and cones) where previous gene products associated with RP have been found.

Both these new genes are thought to be associated with the retina's conversion of Vitamin A to cis-retinal which is essential for rod-cell function. Professor Michael Denton from the University of Otago, New Zealand, and colleagues, found the Recessive RP gene in Indian families. Dr Andreas Gal from Hamburg, Germany, identified a Childhood Retinopathy gene which encodes for a protein, RPE65, which is also associated with Lebers Congenital Amarosis, also a severe form of childhood retinal degeneration.

Another German team from Wursburg University have discovered the gene causing x-linked juvenile retinoschisis. This gene product is believed to be found in the Mueller cells which play a role in translating signals from the rod cells to the nervous system.

"What more genes - and still no cure" said a member - a typical reaction.

We know that every piece of information brings us closer to an understanding of how this highly complex organ - the eye and the retina works - and what goes wrong in retinal degeneration. We feel confident that the concerted efforts of our researchers, with our support, will rind these answers in the near future.