期刊： OPHTHALMIC GENETICS, 2022; 43 (1)
Background Familial exudative vitreoretinopathy (FEVR) is a rare retinal disorder characterised by incomplete retinal vascular development. Symptoms v......
期刊： OPHTHALMIC GENETICS, 2022; 43 (2)
Purpose To investigate the penetrance of MYOC gene mutation in primary open-angle glaucoma (POAG) through systematic review and meta-analysis. To expl......
期刊： OPHTHALMIC GENETICS, 2022; 43 (1)
Background This study aims to identify the underlying genetic cause of a Chinese patient with Leber congenital amaurosis (LCA). Methods Detailed clini......
期刊： OPHTHALMIC GENETICS, 2022; 43 (2)
Background This study aims to investigate the genetic abnormalities in a two-generation Chinese family affected by keratoconus (KC). A two-generation ......
期刊： OPHTHALMIC GENETICS, 2022; 43 (2)
Purpose To investigate the associations of 11 genetic single nucleotide polymorphisms (SNPs) in FRAP1 and PDGFRA with high myopia (HM) in a Han Chines......
期刊： OPHTHALMIC GENETICS, 2022; 43 (5)
Background This study determined to evaluate the association between glutathione S-transferase (GST) polymorphisms, namely, GSTM1 (rs1183423000, prese......
期刊： OPHTHALMIC GENETICS, 2022; 43 (3)
Purpose To identify TOPORS mutations in patients with retinitis pigmentosa (RP) from our cohort and summarize the genotypes and phenotypes of TOPORS r......
期刊： OPHTHALMIC GENETICS, 2022; 43 (1)
Purpose We aimed to reveal the underlying genetic defect in a multigenerational Chinese family with autosomal dominant concomitant strabismus complica......
期刊： OPHTHALMIC GENETICS, 2022; 43 (5)
Background To delineate the mutations of the TGFBI gene in Eastern China by whole-exome sequencing (WES) in eight Chinese families with lattice cornea......
期刊： OPHTHALMIC GENETICS, 2022; 43 (2)
Background Familial exudative vitreoretinopathy (FEVR) is a group of inherited eye diseases characterized by premature arrest of retinal vessel develo......
期刊： OPHTHALMIC GENETICS, 2022; 43 (4)
Background In this case report, we have described congenital inherited endothelial dystrophy (CHED) caused by two heterozygous missense mutations in t......
期刊： OPHTHALMIC GENETICS, 2022; 43 (4)
Background The inheritance pattern of genetically confirmed hereditary juvenile retinoschisis reported so far is X-linked recessive with limited numbe......
期刊： OPHTHALMIC GENETICS, 2022; 43 (4)
Purpose: To explore the underlying molecular mechanism of pterygium and identify the key genes regulating the development of pterygium. Methods: Diffe......
期刊： OPHTHALMIC GENETICS, 2021; 42 (4)
Purpose: Leber congenital amaurosis (LCA) is one of the earliest inherited retinal dystrophies (IRD) that leads to blindness. To date, there have been......
