Age-related macular degeneration (AMD) is a major cause of blindness, but presents differently in Europeans and Asians. Here, we perform a genome-wide and exome-wide association study on 2,119 patients with exudative AMD and 5,691 controls, with independent replication in 4,226 patients and 10,289 controls, all of East Asian descent, as part of The Genetics of AMD in Asians (GAMA) Consortium. We find a strong association between CETP Asp442Gly (rs2303790), an East Asian-specific mutation, and increased risk of AMD (odds ratio (OR)=1.70, P=5.60 × 10−22). The AMD risk allele (442Gly), known to protect from coronary heart disease, increases HDL cholesterol levels by 0.17 mmol l−1 (P=5.82 × 10−21) in East Asians (n=7,102). We also identify three novel AMD loci: C6orf223 Ala231Ala (OR=0.78, P=6.19 × 10−18), SLC44A4 Asp47Val (OR=1.27, P=1.08 × 10−11) and FGD6 Gln257Arg (OR=0.87, P=2.85 × 10−8). Our findings suggest that some of the genetic loci conferring AMD susceptibility in East Asians are shared with Europeans, yet AMD in East Asians may also have a distinct genetic signature.
Choroidal neovascularisation (CNV) is a common vision-threatening complication of myopia and pathological myopia. Despite significant advances in understanding the epidemiology, pathogenesis and natural history of myopic CNV, there is no standard definition of myopic CNV and its relationship to axial length and other myopic degenerative changes. Several treatments are available to ophthalmologists, but with the advent of new therapies there is a need for further consensus and clinical management recommendations. Verteporfin photodynamic therapy has been an established treatment for subfoveal myopic CNV for many years, but this treatment does not restore visual acuity and is associated with long-term chorioretinal atrophy. More recently, clinical trials investigating the efficacy and safety of anti-vascular endothelial growth factor agents in patients with myopic CNV have demonstrated substantial visual acuity gains and quality of life increases compared with photodynamic therapy. These enhanced outcomes provide updated evidence-based clinical management guidelines of myopic CNV, and increase the need for a generally accepted definition for myopic CNV. This review critically summarises the latest myopic CNV literature in the context of clinical experience and recommends a myopic CNV treatment algorithm.
1 September 2006 in American Journal of Ophthalmology
To identify the clinical features, treatment outcomes, and prognostic factors of endogenous endophthalmitis in multiple tertiary referral centers of South Korea over a 6-year period. The authors conducted a retrospective review of medical records of 57 eyes of 43 patients diagnosed with endogenous endophthalmitis from January 2005 to December 2011, which was referred to tertiary referral centers. Fifty-seven cases of 43 patients were followed for a mean of 18.7 months (range, 0.5-50 months). The common underlying diseases were diabetes mellitus (46.5%) and liver cirrhosis (20.93%). Liver abscess (39.5%) was the most common infection source. Among prognostic factors, the initial visual acuity was associated with favorable visual outcome significantly (P < 0.001). Endogeneous endophthalmitis with gram-negative bacteria had worse visual outcomes than gram-positive bacteria or fungus (P = 0.014). Similar to the findings of previous East Asian studies, this study showed that Klebsiella pneumoniae was the most common causative organism of endogenous endophthalmitis and liver abscess was the most common infection focus. Although endogenous endophthalmitis is generally associated with poor visual acuity outcomes, the prognosis depends mainly on the initial visual acuity and the pathogen.