Shared genetic variants for polypoidal choroidal vasculopathy and typical neovascular age-related macular degeneration in East Asians.

Polypoidal choroidal vasculopathy (PCV), a subtype of age-related macular degeneration (AMD) more frequently seen in East Asians, has both common and distinct clinical manifestations with typical neovascular AMD (tAMD). We aim to examine the extent to which common genetic variants are shared between these two subtypes. We performed the meta-analysis of association in a total of 1062 PCV patients, 1157 tAMD patients and 5275 controls of East Asian descent from the Genetics of AMD in Asians Consortium at the 34 known AMD loci. A total of eight loci were significantly associated with PCV, including age-related maculopathy susceptibility 2 (ARMS2)-HtrA serine peptidase 1 (HTRA1), complement factor H (CFH), C2-CFB-SKIV2L, CETP, VEGFA, ADAMTS9-AS2 and TGFBR1 (P<5 × 10-4) from the single-nucleotide polymorphism-based test and COL4A3 from the gene-based tests (Pgene=2.02 × 10-4). PCV and tAMD are genetically highly correlated (rg=0.69, P=4.68 × 10-3), with AMD known loci accounting for up to 36% variation. Weaker association for PCV was observed at ARMS2-HTRA1 (Pdif=4.39 × 10-4) and KMT2E-SRPK2(Pdif=4.43 × 10-3), compared with tAMD. Variants at CFH, CETP and VEGFA exhibited different association signals in East Asians, in contrast to those in European individuals. Our data suggest a substantially shared genetic susceptibility for PCV and tAMD, while also highlight the unique associations for PCV, which is useful in understanding the pathogenesis of PCV.

Six-month visual prognosis in eyes with submacular hemorrhage secondary to age-related macular degeneration or polypoidal choroidal vasculopathy.

BACKGROUND: To determine clinical or imaging prognostic features for visual outcome in eyes with submacular hemorrhage secondary to age-related macular degeneration (AMD) or polypoidal choroidal vasculopathy (PCV). METHODS: A prospective case series of 11 eyes from 11 patients with submacular hemorrhage secondary to AMD or PCV. All participants had measurement of clinical characteristics, fundus angiogram, and indocyanine green angiography, spectral domain optical coherence tomography (OCT, Cirrus, Zeiss) at baseline and 6 months. RESULTS: Median visual acuity improved from 20/132 to 20/63 at month 6. The median improvement in vision was 0.20 LogMAR units. Proportion of eyes with best-corrected visual acuity (BCVA) ≥ 1.0 increased from 6/11 (54.5 %) at baseline to 8/11 (72.7 %) at month 6. Eyes with BCVA > 1.0 were more likely to have larger area of hemorrhage and thinner subfoveal neurosensory retinal thickness at baseline and at month 6. CONCLUSIONS: Thinner neurosensory retina demonstrated on OCT at baseline may be a useful prognostic sign for limited visual recovery.