Seven new loci associated with age-related macular degeneration.

Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new therapies, we executed a collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry. We identified 19 loci associated at P < 5 × 10(-8). These loci show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis. Our results include seven loci with associations reaching P < 5 × 10(-8) for the first time, near the genes COL8A1-FILIP1L, IER3-DDR1, SLC16A8, TGFBR1, RAD51B, ADAMTS9 and B3GALTL. A genetic risk score combining SNP genotypes from all loci showed similar ability to distinguish cases and controls in all samples examined. Our findings provide new directions for biological, genetic and therapeutic studies of AMD.

Photodynamic therapy in practice: a review of the results of the first 12 months experience with verteporfin at the Royal Victorian Eye and Ear Hospital.

PURPOSE: To review the 12-month results of the first 136 eyes treated with photodynamic therapy (PDT) with verteporfin at a single institution, and to determine if this treatment when used in the broader community could reproduce the results achieved in the Treatment of Age-related Macular Degeneration (AMD) with PDT (TAP) study. METHODS: A record of all patients who first received PDT with verteporfin at The Royal Victorian Eye and Ear Hospital between the time of its introduction in February 2000 and February 2001 was prospectively maintained. The medical charts of these cases were reviewed and fluorescein angiograms were graded. Eyes with AMD were classified into three groups: TAP comparable if they had predominantly classic subfoveal choroidal neovascularization (CNV) and visual acuity between 6/12 and 6/60; VIP comparable if they had occult but no classic subfoveal CNV and visual acuity better than 6/36; and PDT ineligible if they fell outside recommended eligibility guidelines of the TAP/VIP studies. The main outcome measure was visual acuity change, with total number of treatments a secondary outcome variable. RESULTS: A total of 136 eyes of 130 patients began PDT during this period. The baseline angiogram and clinical data were available for 123 eyes (90%), and these were reviewed. Fourteen eyes had non-AMD related CNV, while 109 eyes of 105 patients had AMD. Of the 109 AMD related lesions, 72 (66%) were TAP comparable, six (5.5%) were VIP comparable and 31 (28%) were PDT ineligible. At the 12-month visit the proportion of TAP comparable eyes with same or better vision was 36/72 (50%), compared to 13/31 (42%) of the PDT ineligible eyes (P = 0.45). Only 30/72 (42%) of the TAP comparable eyes were still undergoing regular angiographic and clinical assessment (similar to the TAP protocol) at the time of the 12 month visit. The number of these who had same or better vision at 12 months was 17/30 (57%) compared to 19/42 (44%) TAP comparable eyes without regular angiographic follow up to 12 months (P = 0.37). CONCLUSDIONS; When used according to the guidelines established by the TAP study, the visual acuity results with PDT approached those achieved in the TAP study. When eyes were either enrolled outside the TAP study eligibility guidelines, or were not actively followed up over the 12-month period as per TAP study guidelines, the visual outcome was similar to natural history of CNV secondary to AMD.