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BACKGROUND The paired box 6 (PAX6) gene is considered as a master gene for eye development. Linkage of myopia to the PAX6 region on chromosome 11p13 was shown in several studies, but the results for association between myopia and PAX6 were inconsistent so far. METHODOLOGY/PRINCIPAL FINDINGS We genotyped 16 single nucleotide polymorphisms (SNPs) in the(More)
PURPOSE To gain insight into the mechanisms underlying the transforming growth factor-beta induced (TGFBI)-related corneal dystrophies and the influence of the Arg555Trp and Thr538Pro, TGFBI mutations on C-terminal cleavage and cell endoplasmic reticulum (ER) stress were investigated. METHODS The Arg555Trp and Thr538Pro mutations known to be associated(More)
The UMODL1 gene was found to be associated with high myopia in Japanese. This study aimed to investigate this gene for association with high myopia in Chinese. Two groups of unrelated Han Chinese from Hong Kong were recruited using the same criteria: Sample Set 1 comprising 356 controls (spherical equivalent, SE, within ±1 diopter or D) and 356 cases (SE ≤(More)
BACKGROUND Pollen is the most common aeroallergen to cause conjunctivitis. In this study, we established a short ragweed (SRW)-induced mouse model of allergic conjunctivitis (AC) and aimed to explore the potential role of miR-146a and its downstream molecules in the development of ocular allergic inflammation. MATERIAL AND METHODS The mouse model of(More)
Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical features of NHS in a Chinese family. Whole exome sequencing analysis(More)
Detection of progression is paramount to the clinical management of glaucoma. Our goal is to compare the performance of standard automated perimetry (SAP), short-wavelength automated perimetry (SWAP), and frequency-doubling technology (FDT) perimetry in monitoring glaucoma progression.Longitudinal data of paired SAP, SWAP, and FDT from 113 eyes with primary(More)
The mouse model has been widely employed to explore the mysteries of myopia. For now, existing techniques for induction of experimental myopia in mice can be classified into three types: (1) devices directly glued to the fur; (2) devices attached using a combination of glue and sutures; (3) devices attached using a skull-mounted apparatus. These techniques(More)
Posterior polymorphous corneal dystrophy (PPCD) is an extremely rare, bilateral, and inherited disorder, which affects the corneal endothelium and Descemet's membrane. Few PPCD cases in Chinese patients have been published so far. As far as we know, there are few studies which focused on the associations between PPCD and high myopia either. Here we report a(More)
The purpose of this study was to investigate the clinical characteristic and visual outcome of siderosis bulbi with retained intraocular foreign body (IOFB) and to validate the predictive value of the Ocular Trauma Score (OTS) in siderosis bulbi. Certain numerical values rendered to the OTS variables at present were summated (Table 1) and converted into 5(More)
Rosai-Dorfman disease (RDD) is rare and characterized by histiocytic proliferation and massive cervical lymphadenopathy. About 40% of patients have extra-nodal involvement. Opthalmic involvement is seen in 10% of cases. A case of orbital Rosai Dorfman disease in a 58 years old woman is presented here, who was misdiagnosed as orbital inflammatory disease(More)
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