A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree.

Background: Sclerocornea is a rare congenital disorder characterized with the opacification of the cornea. Here, we report a nonconsanguineous Chinese family with multiple peripheral sclerocornea patients spanning across three generations inherited in an autosomal dominant manner.

Methods: This is a retrospective case series of a peripheral sclerocornea pedigree.

A sclerocornea-associated RAD21 variant induces corneal stroma disorganization.

Sclerocornea is a cornea opacification disorder. Disorganized corneal stroma fibrils are observed in patients' cornea. Previously we identified a RAD21 variant that is associated with a peripheral sclerocornea pedigree.

Improving the quality of electroretinogram recordings using active electrodes.

The aim of this study was to compare the quality of electroretinogram (ERG) recordings using a custom built active electrode with attached amplifier versus a standard (passive) ERG electrode. Scotopic and photopic ERG responses were recorded from five adult albino rabbits using a custom built active electrode on one eye and a passive electrode on the other. For the active electrode, the ERG-jet electrode (Universo S.

Identification of ANGPT2 as a New Gene for Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in the Chinese and Japanese Populations.

Purpose: We determine the angiopoietin 2 (ANGPT2) gene as a new susceptibility gene for neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV).

Methods: A total of 34 haplotype-tagging single-nucleotide polymorphisms (SNPs) were first genotyped in an exploratory Hong Kong Chinese cohort. Suggestive SNPs were replicated in a Shantou Chinese cohort and an Osaka Japanese cohort, with a total of 2343 subjects.

A common variant near TGFBR3 is associated with primary open angle glaucoma.

Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.

Association of PEDF polymorphisms with age-related macular degeneration and polypoidal choroidal vasculopathy: a systematic review and meta-analysis.

This study assesses the association of the pigment epithelium-derived factor (PEDF) gene with age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV). Publications in MEDLINE and EMBASE up to 21/08/2014 were searched for case-control association studies of PEDF with AMD and/or PCV. Reported studies giving adequate genotype and/or allele information were included.

New loci and coding variants confer risk for age-related macular degeneration in East Asians.

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.

Does cigarette smoking alter the risk of pterygium? A systematic review and meta-analysis.

Purpose: To determine the association of cigarette smoking with pterygium.

Methods: Potentially eligible studies published from the year 1946 to December 28, 2013 were identified from MEDLINE, EMBASE, and Cochrane Library databases, and reference lists. All studies that evaluated smoking as an independent factor for pterygium were identified.

ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.

Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size =  -0.

Corneal biomechanical properties and associated factors in school-age children.

Purpose: To study and analyze the correlation among corneal biomechanical properties and associated factors including central corneal thickness (CCT), corneal curvature (CT), and intraocular pressure (IOP) in school-age children.

Methods: A cross sectional investigation was conducted. An ocular response analyzer was utilized to assess the corneal biomechanical properties, such as corneal hysteresis and corneal resistance factors, in children of school age.

Comparative study of the disinfection effects of three types of conjunctiva sac irrigations.

Purpose: The antiseptic effectiveness of 5% anerdian III, 0.016% gentamicin, and 0.5% tobramycin solutions in pre-surgical irrigation of conjunctival sac were compared.

A case of corneoscleral dellen after medial rectus recession combined with pterygium resection in right eye.

Purpose: A case of corneoscleral dellen after medial rectus recession combined with pterygium resection was reported.

Methods: Case report

Results: A male patient aged 48 years had ghost for 1 year after acoustic neuroma resection. The patient was diagnosed with rectus paresis in the right eye.

Effect of NF-κB inhibitor PDTC on a herpetic stromal keratitis mouse model.

Purpose: To investigate the effect of NF-κB inhibitor PDTC on inflammation response in mice with herpetic stromal keratitis (HSK).

Methods: A total of 120 female BALB/c mice, aged 4~6 weeks, were treated by scuffing the epithelium of the right cornea with the tip of a 30G syringe needle, and approximately 1 ×106PFU of HSV-1virus was seeded onto the corneal surface. The eye was then exposed to 170mJ/cm2 of UV light 7 weeks later, in order to induce the relapse of HSK.

Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study including 1,854 PACG cases and 9,608 controls across 5 sample collections in Asia. Replication experiments were conducted in 1,917 PACG cases and 8,943 controls collected from a further 6 sample collections.

SIRT1 and SIRT5 activity expression and behavioral responses to calorie restriction.

To investigate the effects of calorie restriction (CR) on behavioral performance and expression of SIRT1 and SIRT5 in rat cerebral tissues. Beginning at 18 months of age, 60 rats were randomly divided into a CR group (n = 30) and a group that remained fed ad libitum (AL; n = 30). CR rats were restricted to a diet of 60% of their daily food consumption.

[Phacoemulsification with intraocular lens implantation through a 2.6 mm incision in high myopia].

Purpose: To evaluate the clinical effects of the low power and negative power acrylic foldable intraocular lens (AcrySof IOL) implatation through 2.6 mm incision.

Methods: Fifty-two cases (68 eyes) cataract with high myopia were performed phacoemulsification, applied Monarch II injection delivery system for IOL insertion to implant the low power and negative power AcrySof IOL through 2.