A paper submitted by our research group has been published in the journal Human Mutation. Using a cohort of 468 patients with geographic atrophy (the advanced form of dry macular degeneration), to investigate the occurrence of a gene mutation of a protein that is used by the immune system. A mutation in the Complement Factor I (CFI) gene is known to increase the risk of advanced macular degeneration. A link to the publication is given here. This is exciting news, as recovery of normal CFI protein levels (which are lowered by the mutation) may be possible in the future, through gene therapy or an oral supplement.
