Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Emmanuelle Souzeau, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this Article. This has now been corrected in both the PDF and HTML versions of the Article

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Emmanuelle Souzeau, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this Article. This has now been corrected in both the PDF and HTML versions of the Article

Quality of Life and Psychological Effects of Port-Wine Stain: A Review of Literature

Rungsima Wanitphakdeedecha,1,2 Janice Natasha C Ng,1 Chadakan Yan,1 Woraphong Manuskiatti,1 Tatchalerm Sudhipongpracha,2 Tatre Jantarakolica3 1Department of Dermatology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; 2College of Interdisciplinary Studies, Thammasat University, Bangkok, Thailand; 3Faculty of Economics, Thammasat University, Bangkok, ThailandCorrespondence: Rungsima WanitphakdeedechaDepartment of Dermatology, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Pran-nok Road, Bangkok, 10700, ThailandTel + 66-2419-4333Fax + 66-2411-9922Email [email protected]: Port-wine stain (PWS) is a congenital malformation that does not resolve spontaneously and can cause a physiological or psychological burden to the patients. At present, most of the studies done on PWS are focused on the treatment rather than the quality of life and psychological effects of the disease.Material and Methods: A comprehensive literature search was done in MEDLINE using PubMed database, Embase®, and Cochrane. All observational studies were included in this review.Results: A total of 17 relevant articles with 2,135 PWS patients were included in this review. There were 36 measurement tools used to assess the quality of life and the psychological effects among PWS patients. The results showed that patients with facial PWS had a significant negative effect on their quality of life and had also suffered from psychological disabilities. The PWS lesion tends to worsen with age and may cause further adaptation problems towards the social environment, especially in children.Conclusion: Early treatment, psychological assistance, and patient support are the key management in improving the quality of life of patients with PWS. Quality of life must be regularly assessed together with the improvement of treatment.Keywords: port-wine stain, quality of life, psychological effect

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 cases with advanced POAG and 1,992 controls. We investigated the association of the top SNPs from the discovery stage in two Australian replication cohorts (932 cases and 6,862 controls total) and two US replication cohorts (2,616 cases and 2,634 controls total). Meta-analysis of all cohorts identified three loci newly associated with development of POAG. These loci are located upstream of ABCA1 (rs2472493[G], odds ratio (OR) = 1.31, P = 2.1 × 10(-19)), within AFAP1 (rs4619890[G], OR = 1.20, P = 7.0 × 10(-10)) and within GMDS (rs11969985[G], OR = 1.31, P = 7.7 × 10(-10)). Using RT-PCR and immunolabeling, we show that these genes are expressed within human retina, optic nerve and trabecular meshwork and that ABCA1 and AFAP1 are also expressed in retinal ganglion cells

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Emmanuelle Souzeau, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this Article. This has now been corrected in both the PDF and HTML versions of the Article

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Emmanuelle Souzeau, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this Article. This has now been corrected in both the PDF and HTML versions of the Article

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 x 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 x 10(-11) for rs2472493 near ABCA1 and P = 6.39 x 10(-11) for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 x 10(-11) for rs747782). Separate meta-analyses of 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG