Screening of genes interacting with high myopia and neuropsychiatric disorders.

Clinical studies have demonstrated an association between high myopia (HM) and neuropsychiatric disorders; however, the underlying mechanism of the association is not clear. We used whole exome sequencing (WES) in combination with the Genetic Variants Classification Criteria and Guidelines published by the American College of Medical Genetics (ACMG) and bioinformatics analysis to clarify the interrelationship between candidate genes. Causative genes for ocular diseases (45.

Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China.

High myopia (HM) is a leading cause of visual impairment in the world. To expand the genotypic and phenotypic spectra of HM in the Chinese population, we investigated genetic variations in a cohort of 113 families with nonsyndromic early-onset high myopia from northwestern China by whole-exome sequencing, with focus on 17 known genes. Sixteen potentially pathogenic variants predicted to affect protein function in eight of seventeen causative genes for HM in fifteen (13.

Mutational screening of , , , , , and in a Chinese cohort of 103 patients with nonsyndromic high myopia.

Purpose: High myopia (HM) is one of the leading causes of irreversible vision loss in the world. Many myopia loci have been uncovered with linkage analysis, genome-wide association studies, and sequencing analysis. Numerous pathogenic genes within these loci have been detected in a portion of HM cases.

Whole-Exome Sequencing in a Cohort of High Myopia Patients in Northwest China.

High myopia (HM) is one of the leading causes of visual impairment worldwide. In order to expand the myopia gene spectrum in the Chinese population, we investigated genetic mutations in a cohort of 27 families with HM from Northwest China by using whole-exome sequencing (WES). Genetic variations were filtered using bioinformatics tools and cosegregation analysis.

Evaluating correlation between the ocular biometry and genetic variants of and with primary angle-closure glaucoma in a cohort from northern China.

Aim: To investigate whether the gene variants in and are associated with primary angle-closure glaucoma (PACG) and anterior chamber depth (ACD) and axial length (AL) in samples from northern China.

Methods: The present case-control association study consisted of 500 PACG patients and 720 unrelated controls. Each participant was genotyped for eleven single nucleotide polymorphisms (SNPs) in and genes (rs12076134, rs183532, rs235875 and rs235913 in , rs2422493, rs2487042, rs2472496, rs2472493, rs2487032, rs2472459 and rs2472519 near ) using an improved multiplex ligation detection reaction (iMLDR) technique.

mutation in a Chinese family with unusual Crouzon syndrome.

Aim: To describe the clinical characteristics with genetic lesions in a Chinese family with Crouzon syndrome.

Methods: All five patients from this family were included and received comprehensive ophthalmic and systemic examinations. Direct sequencing of the gene was employed for mutation identification.

Peripapillary retinal nerve fiber layer thickness distribution in Chinese with myopia measured by 3D-optical coherence tomography.

Aim: To assess the effect of myopia on the thickness of retinal nerve fiber layer (RNFL) measured by 3D optical coherence tomography (3D-OCT) in a group of nonglaucomatous Chinese subjects.

Methods: Two hundred and fifty-eight eyes of 258 healthy Chinese myopic individuals were recruited and four groups were classified according to their spherical equivalent (SE): low myopia (n=42, -0.5D View Article and Find Full Text PDF

[Association study of insulin-like growth factor-1 polymorphisms with extreme high myopia].

Objective: To investigate whether the polymorphisms of insulin-like growth factor-1 (IGF-1) gene and its regulatory regions are associated with extreme high myopia.

Methods: A case-control analysis of 302 subjects with extreme high myopia and 401 controls was undertaken. Genomic DNA was obtained from peripheral blood.

Outcomes and possible risk factors associated with axis alignment and rotational stability after implantation of the Toric implantable collamer lens for high myopic astigmatism.

Aim: To assess the visual outcomes and possible risk factors associated with axis alignment and rotational stability after implantation of Toric implantable collamer lens (TICL) for the correction of high myopic astigmatism.

Methods: In this prospective, nonrandomized clinical study, 54 consecutive eyes of 29 patients with high myopic astigmatism received TICL implantation. To evaluate postoperative axis deviation from the intended axis, a digital anterior segment photograph was taken.

[Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa].

Objective: To screen the mutation in the RPGR gene in a large Chinese family with X-linked recessive retinitis pigmentosa (RP) and to describe the phenotype in affected males and female carriers.

Methods: Ophthalmic examinations were performed in 77 family members of a RP pedigree to identify affected individuals. Polymerase chain reaction (PCR) and direct sequencing were used for screening of mutations in RPGR gene exon ORF15.