Terri Lois Young

Journal Article Nat Genet · July 2023 Glaucoma, a leading cause of irreversible blindness, is a highly heritable human disease. Previous genome-wide association studies have identified over 100 loci for the most common form, primary open-angle glaucoma. Two key glaucoma-associated traits also ... Full text Link to item Cite

Glaucoma Cascade Screening in a High Risk Afro-Caribbean Haitian Population: A Pilot Study.

Journal Article J Glaucoma · July 1, 2022 PRCIS: Glaucoma cascade screening in first-degree relatives (FDRs) of young Haitian glaucoma patients had high yield for diagnosing manifest and suspected glaucoma in 30.8% of those screened despite modest participation. PURPOSE: To evaluate the outcomes o ... Full text Link to item Cite

Cellular crosstalk regulates the aqueous humor outflow pathway and provides new targets for glaucoma therapies.

Journal Article Nat Commun · October 18, 2021 Primary congenital glaucoma (PCG) is a severe disease characterized by developmental defects in the trabecular meshwork (TM) and Schlemm's canal (SC), comprising the conventional aqueous humor outflow pathway of the eye. Recently, heterozygous loss of func ... Full text Link to item Cite

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.

Journal Article Nat Commun · February 24, 2021 Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 ... Full text Link to item Cite

Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error.

Journal Article Commun Biol · March 19, 2020 Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasi ... Full text Link to item Cite

Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma.

Journal Article Invest Ophthalmol Vis Sci · July 1, 2019 PURPOSE: To determine genetic correlations between common myopia and primary open-angle glaucoma (POAG). METHODS: We tested the association of myopia polygenic risk scores (PRSs) with POAG and POAG endophenotypes using two studies: the Australian & New Zea ... Full text Link to item Cite

IMI - Myopia Genetics Report.

Journal Article Invest Ophthalmol Vis Sci · February 28, 2019 The knowledge on the genetic background of refractive error and myopia has expanded dramatically in the past few years. This white paper aims to provide a concise summary of current genetic findings and defines the direction where development is needed. We ... Full text Link to item Cite

In-utero epigenetic factors are associated with early-onset myopia in young children.

Journal Article PLoS One · 2019 OBJECTIVES: To assess whether epigenetic mechanisms affecting gene expression may be involved in the pathogenesis of early-onset myopia, we performed genome-wide DNA methylation analyses of umbilical cord tissues, and assessed any associations between CpG ... Full text Link to item Cite

Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.

Journal Article PLoS One · 2019 PURPOSE: To evaluate the roles of known myopia-associated genetic variants for development of myopic macular degeneration (MMD) in individuals with high myopia (HM), using case-control studies from the Consortium of Refractive Error and Myopia (CREAM). MET ... Full text Link to item Cite

Correction: Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.

Journal Article PLoS One · 2019 [This corrects the article DOI: 10.1371/journal.pone.0220143.]. ... Full text Link to item Cite

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.

Journal Article Commun Biol · 2019 A new avenue of mining published genome-wide association studies includes the joint analysis of related traits. The power of this approach depends on the genetic correlation of traits, which reflects the number of pleiotropic loci, i.e. genetic loci influe ... Full text Link to item Cite

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.

Journal Article Nat Genet · June 2018 Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replication in 95,505 participants increased the number ... Full text Link to item Cite

Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus.

Journal Article Invest Ophthalmol Vis Sci · May 1, 2018 PURPOSE: To identify genetic risk factors contributing to central corneal thickness (CCT) in individuals from South India, a population with a high prevalence of ocular disorders. METHODS: One hundred ninety-five individuals from 15 large South Indian pedi ... Full text Link to item Cite

Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma.

Journal Article PLoS Genet · January 2018 Central corneal thickness (CCT) is one of the most heritable ocular traits and it is also a phenotypic risk factor for primary open angle glaucoma (POAG). The present study uses the BXD Recombinant Inbred (RI) strains to identify novel quantitative trait l ... Full text Link to item Cite

Accuracy of Inferred APOE Genotypes for a Range of Genotyping Arrays and Imputation Reference Panels.

Journal Article J Alzheimers Dis · 2018 Cohort studies investigating aging and dementia require APOE genotyping. We compared directly measured APOE genotypes to 'hard-call' genotypes derived from imputing genome-wide genotyping data from a range of platforms using several imputation panels. Olde ... Full text Link to item Cite

Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study.

Journal Article Int J Epidemiol · December 1, 2017 BACKGROUND: Myopia prevalence has increased in the past 20 years, with many studies linking the increase to reduced time spent outdoors. A number of recent observational studies have shown an inverse association between vitamin D [25(OH)D] serum levels and ... Full text Link to item Cite

Angiopoietin-1 is required for Schlemm's canal development in mice and humans.

Journal Article J Clin Invest · December 1, 2017 Primary congenital glaucoma (PCG) is a leading cause of blindness in children worldwide and is caused by developmental defects in 2 aqueous humor outflow structures, Schlemm's canal (SC) and the trabecular meshwork. We previously identified loss-of-functio ... Full text Open Access Link to item Cite

Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility.

Journal Article Nat Commun · November 24, 2017 Glaucoma is a multi-factorial blinding disease in which genetic factors play an important role. Elevated intraocular pressure is a highly heritable risk factor for primary open angle glaucoma and currently the only target for glaucoma therapy. Our study he ... Full text Link to item Cite

Ocular Determinants of Refractive Error and Its Age- and Sex-Related Variations in the Chinese American Eye Study.

Journal Article JAMA Ophthalmol · July 1, 2017 IMPORTANCE: Uncorrected refractive error (RE) is a leading cause of visual impairment, and variations in ocular anatomy determine RE. The unique ocular determinants of RE in Chinese American individuals have not been studied previously. OBJECTIVE: To repor ... Full text Link to item Cite

Exome Sequence Analysis of 14 High-Grade Myopia Families

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2017 Link to item Cite

Association of ANGPT1 with Primary Open Angle Glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2017 Link to item Cite

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia.

Journal Article Proc Natl Acad Sci U S A · April 18, 2017 The etiology of the highly myopic condition has been unclear for decades. We investigated the genetic contributions to early-onset high myopia (EOHM), which is defined as having a refraction of less than or equal to -6 diopters before the age of 6, when ch ... Full text Link to item Cite

Exome Sequence Analysis of 14 Families With High Myopia.

Journal Article Invest Ophthalmol Vis Sci · April 1, 2017 PURPOSE: To identify causal gene mutations in 14 families with autosomal dominant (AD) high myopia using exome sequencing. METHODS: Select individuals from 14 large Caucasian families with high myopia were exome sequenced. Gene variants were filtered to id ... Full text Link to item Cite

Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.

Journal Article Ophthalmic Genet · 2017 BACKGROUND: In a four-generation Caucasian family variably diagnosed with autosomal dominant (AD) Stickler or Wagner disease, commercial gene screening failed to identify a mutation in COL2A1 or VCAN. We utilized linkage mapping and exome sequencing to ide ... Full text Link to item Cite

Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.

Journal Article Arq Bras Oftalmol · 2017 Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as progressive retinal degeneration leading to blindness in the second or third decade of ... Full text Link to item Cite

Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos.

Journal Article Hum Mol Genet · November 15, 2016 The cornea is the outermost layer of the eye and is a vital component of focusing incoming light on the retina. Central corneal thickness (CCT) is now recognized to have a significant role in ocular health and is a risk factor for various ocular diseases, ... Full text Link to item Cite

Large-scale microRNA expression profiling identifies retinal miRNA-mRNA signaling pathways underlying form-deprivation myopia in mice

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

Gene variant identified for unusual eyelid, eyebrow, and conjunctival syndrome

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

Defects in Angiopoietin-Tie2 signaling lead to dose-dependent glaucoma in mice

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

Mutations in a new gene cause glaucoma with variable onset

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

Response: Cycloplegia in refraction: age and cycloplegics.

Journal Article Acta Ophthalmol · August 2016 Full text Link to item Cite

Posterior Eye Shape Measurement With Retinal OCT Compared to MRI.

Journal Article Invest Ophthalmol Vis Sci · July 1, 2016 PURPOSE: Posterior eye shape assessment by magnetic resonance imaging (MRI) is used to study myopia. We tested the hypothesis that optical coherence tomography (OCT), as an alternative, could measure posterior eye shape similarly to MRI. METHODS: Macular s ... Full text Link to item Cite

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

Journal Article J Clin Invest · July 1, 2016 Primary congenital glaucoma (PCG) is a devastating eye disease and an important cause of childhood blindness worldwide. In PCG, defects in the anterior chamber aqueous humor outflow structures of the eye result in elevated intraocular pressure (IOP); howev ... Full text Open Access Link to item Cite

Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium.

Journal Article Sci Rep · May 13, 2016 Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of associat ... Full text Link to item Cite

Prevalence of diabetic retinopathy in adult Chinese American individuals: The Chinese American eye study

Journal Article JAMA Ophthalmology · May 1, 2016 IMPORTANCE Chinese American individuals are a fast-growing segment of people in the United States, but the burden and effect of diabetic complications on this group of people is not fully understood. OBJECTIVE To determine the age- and sex-specific prevale ... Full text Cite

Prevalence of age-related macular degeneration in Chinese American Adults: The Chinese American eye study

Journal Article JAMA Ophthalmology · May 1, 2016 IMPORTANCE Population-based prevalence estimates of age-related macular degeneration (AMD) need to be determined to assess its burden among Chinese Americans, the fastest growing racial group in the United States. OBJECTIVE To determine the age- and sex- s ... Full text Cite

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.

Journal Article Nat Commun · March 29, 2016 Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test ... Full text Link to item Cite

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

Journal Article Nat Commun · January 21, 2016 Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data ... Full text Link to item Cite

Large-Scale microRNA Expression Profiling Identifies Putative Retinal miRNA-mRNA Signaling Pathways Underlying Form-Deprivation Myopia in Mice.

Journal Article PLoS One · 2016 Development of myopia is associated with large-scale changes in ocular tissue gene expression. Although differential expression of coding genes underlying development of myopia has been a subject of intense investigation, the role of non-coding genes such ... Full text Open Access Link to item Cite

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.

Journal Article Nat Genet · November 2015 We carried out a trans-ancestry genome-wide association and replication study of blood pressure phenotypes among up to 320,251 individuals of East Asian, European and South Asian ancestry. We find genetic variants at 12 new loci to be associated with blood ... Full text Link to item Cite

Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.

Journal Article Mol Psychiatry · October 2015 Usual sleep duration is a heritable trait correlated with psychiatric morbidity, cardiometabolic disease and mortality, although little is known about the genetic variants influencing this trait. A genome-wide association study (GWAS) of usual sleep durati ... Full text Link to item Cite

Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

Journal Article Hum Mol Genet · March 15, 2015 Human height is associated with risk of multiple diseases and is profoundly determined by an individual's genetic makeup and shows a high degree of ethnic heterogeneity. Large-scale genome-wide association (GWA) analyses of adult height in Europeans have i ... Full text Link to item Cite

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.

Journal Article Genet Epidemiol · March 2015 Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim ... Full text Link to item Cite

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

Journal Article Hum Genet · February 2015 To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at leas ... Full text Link to item Cite

Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.

Journal Article Diabetes · January 2015 Fasting plasma glucose (FPG) has been recognized as an important indicator for the overall glycemic state preceding the onset of metabolic diseases. So far, most indentified genome-wide association loci for FPG were derived from populations with European a ... Full text Link to item Cite

Myopia in young adults is inversely related to an objective marker of ocular sun exposure: the Western Australian Raine cohort study.

Journal Article Am J Ophthalmol · November 2014 PURPOSE: To determine the association between ocular sun exposure measured by conjunctival ultraviolet (UV) autofluorescence and myopic refractive error in young adults. DESIGN: Cross-sectional study. METHODS: setting: Population-based cohort in Western Au ... Full text Link to item Cite

Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.

Journal Article Hum Mol Genet · October 15, 2014 Recent genetic association studies have identified 55 genetic loci associated with obesity or body mass index (BMI). The vast majority, 51 loci, however, were identified in European-ancestry populations. We conducted a meta-analysis of associations between ... Full text Link to item Cite

Corrigendum to "Whole genome expression profiling of normal human fetal and adult ocular tissues" [Exp. Eye Res. 116 (2013) 265-278] DOI: 10.1016/j.exer.2013.08.009

Journal Article Experimental Eye Research · October 1, 2014 Full text Cite

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

Journal Article Nat Genet · October 2014 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 coh ... Full text Link to item Cite

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

Journal Article Nat Commun · September 22, 2014 Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of verti ... Full text Link to item Cite

What is the appropriate age cut-off for cycloplegia in refraction?

Journal Article Acta Ophthalmol · September 2014 PURPOSE: To investigate the age range for which cycloplegia provides additional information compared with non-cycloplegic refraction in teenagers and young adults. METHODS: Data for 1295 subjects (704 female; 591 male) from the Twins Eye Study in Tasmania ... Full text Link to item Cite

Genetic variants associated with severe retinopathy of prematurity in extremely low birth weight infants.

Journal Article Invest Ophthalmol Vis Sci · August 12, 2014 PURPOSE: To determine genetic variants associated with severe retinopathy of prematurity (ROP) in a candidate gene cohort study of US preterm infants. METHODS: Preterm infants in the discovery cohort were enrolled through the Eunice Kennedy Shriver Nationa ... Full text Link to item Cite

Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.

Journal Article Am J Hum Genet · July 3, 2014 Although age-dependent effects on blood pressure (BP) have been reported, they have not been systematically investigated in large-scale genome-wide association studies (GWASs). We leveraged the infrastructure of three well-established consortia (CHARGE, GB ... Full text Link to item Cite

Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.

Journal Article Diabetes · July 2014 Glycated hemoglobin A1c (HbA1c) is used as a measure of glycemic control and also as a diagnostic criterion for diabetes. To discover novel loci harboring common variants associated with HbA1c in East Asians, we conducted a meta-analysis of 13 genome-wide ... Full text Link to item Cite

A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort.

Journal Article Hum Mol Genet · June 15, 2014 Glaucoma is a major cause of blindness in the world. To date, common genetic variants associated with glaucoma only explain a small proportion of its heritability. We performed a genome-wide association study of intra-ocular pressure (IOP), an underlying e ... Full text Link to item Cite

Hereditary Benign Intraepithelial Dykeratosis in a Native American Tribe

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · April 1, 2014 Link to item Cite

Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.

Journal Article Ophthalmic Genet · March 2014 BACKGROUND: The Atonal Homolog 7 (ATOH7) gene has been implicated in association studies with optic nerve head diameter size. Hence, we screened optic nerve hypoplasia (ONH) patient DNA samples from Australia, France, and the United States for sequence var ... Full text Link to item Cite

A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.

Journal Article Hum Mol Genet · February 15, 2014 Blood levels of adiponectin, an adipocyte-secreted protein correlated with metabolic and cardiovascular risks, are highly heritable. Genome-wide association (GWA) studies for adiponectin levels have identified 14 loci harboring variants associated with blo ... Full text Link to item Cite

Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts.

Journal Article JAMA Ophthalmol · January 2014 IMPORTANCE: To date, relatively few genes responsible for a fraction of heritability have been identified by means of large genetic association studies of refractive error. OBJECTIVE: To explore the genetic mechanisms that lead to refractive error in the g ... Full text Link to item Cite

Refraction issues in childhood: when to prescribe glasses.

Journal Article J Pediatr Ophthalmol Strabismus · 2014 Full text Link to item Cite

Birth order and myopia.

Journal Article Ophthalmic Epidemiol · December 2013 PURPOSE: An association between birth order and reduced unaided vision (a surrogate for myopia) has been observed previously. We examined the association between birth order and myopia directly in four subject groups. METHODS: Subject groups were participa ... Full text Link to item Cite

Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.

Journal Article Hum Mol Genet · November 15, 2013 To discover quantitative trait loci for intraocular pressure, a major risk factor for glaucoma and the only modifiable one, we performed a genome-wide association study on a discovery cohort of 2175 individuals from Sydney, Australia. We found a novel asso ... Full text Link to item Cite

Whole genome expression profiling of normal human fetal and adult ocular tissues.

Journal Article Exp Eye Res · November 2013 To study growth and development of ocular tissues, gene expression patterns in normal human fetal versus adult eyes were compared. Human retina/retinal pigment epithelium, choroid, sclera, optic nerve* and cornea* tissues were dissected from fetal (24 week ... Full text Link to item Cite

Genetics of eye disease

Chapter · October 5, 2013 Cite

Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models.

Journal Article Exp Eye Res · September 2013 Genetic studies of both population-based and recruited affected patient cohorts have identified a number of genomic regions and candidate genes that may contribute to myopic development. Scientists have developed animal models of myopia, as collection of a ... Full text Link to item Cite

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.

Journal Article Am J Hum Genet · August 8, 2013 Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, comb ... Full text Link to item Cite

Myopia-related fundus changes in Singapore adults with high myopia.

Journal Article Am J Ophthalmol · June 2013 PURPOSE: To examine the pattern of myopia-related macular and optic disc changes in Singapore adults with high myopia (spherical equivalent ≤-6.00 diopters). DESIGN: Asian adults with high myopia from 3 population-based surveys. METHODS: Adults 40 years an ... Full text Link to item Cite

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

Journal Article Invest Ophthalmol Vis Sci · May 3, 2013 PURPOSE: Mutations in ZEB1 have been reported in posterior polymorphous corneal dystrophy (PPCD3; MIM #609141) and Fuchs' endothelial corneal dystrophy (FECD6; MIM #613270). Although PPCD and keratoconus are clinically and pathologically distinct, PPCD has ... Full text Link to item Cite

Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.

Journal Article Am J Hum Genet · May 2, 2013 Myopia, or near-sightedness, is an ocular refractive error of unfocused image quality in front of the retinal plane. Individuals with high-grade myopia (dioptric power greater than -6.00) are predisposed to ocular morbidities such as glaucoma, retinal deta ... Full text Link to item Cite

Copy number variation at chromosome 5q21.2 is associated with intraocular pressure.

Journal Article Invest Ophthalmol Vis Sci · May 1, 2013 PURPOSE: Glaucoma is a major cause of blindness in the world. Recent genome-wide association studies (GWAS) have identified common genetic variants for glaucoma, but still a significant heritability gap remains. We hypothesized that copy number variants (C ... Full text Link to item Cite

Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.

Journal Article J Med Genet · April 2013 BACKGROUND: Corneal intraepithelial dyskeratosis is an extremely rare condition. The classical form, affecting Native American Haliwa-Saponi tribe members, is called hereditary benign intraepithelial dyskeratosis (HBID). Herein, we present a new form of co ... Full text Link to item Cite

Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.

Journal Article Invest Ophthalmol Vis Sci · March 21, 2013 PURPOSE: Myopia, or nearsightedness, is a common ocular genetic disease for which over 20 candidate genomic loci have been identified. The high-grade myopia locus, MYP3, has been reported on chromosome 12q21-23 by four independent linkage studies. METHODS: ... Full text Link to item Cite

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

Journal Article Am J Ophthalmol · March 2013 PURPOSE: To screen primary congenital glaucoma patients in the United States for sequence variants within the CYP1B1, LTBP2, and MYOC genes using Sanger and whole exome sequencing. DESIGN: Retrospective case-control study. METHODS: Fifty-seven primary cong ... Full text Link to item Cite

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

Journal Article Nat Genet · March 2013 Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals ... Full text Link to item Cite

Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy.

Journal Article Invest Ophthalmol Vis Sci · February 15, 2013 PURPOSE: To determine the role of variant L opsin haplotypes in seven families with Bornholm Eye Disease (BED), a cone dysfunction syndrome with dichromacy and myopia. METHODS: Analysis of the opsin genes within the L/M opsin array at Xq28 included cloning ... Full text Link to item Cite

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

Journal Article Nat Genet · February 2013 Central corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma. We performed a meta-analysis on >20,000 individuals in European and Asian populations that identified 16 new loci associated with CCT at genome-wide signi ... Full text Link to item Cite

Identification of a candidate gene for astigmatism.

Journal Article Invest Ophthalmol Vis Sci · February 1, 2013 PURPOSE: Astigmatism is a common refractive error that reduces vision, where the curvature and refractive power of the cornea in one meridian are less than those of the perpendicular axis. It is a complex trait likely to be influenced by both genetic and e ... Full text Link to item Cite

A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry.

Journal Article PLoS One · 2013 Glycated hemoglobin A1C (HbA1C) level is used as a diagnostic marker for diabetes mellitus and a predictor of diabetes associated complications. Genome-wide association studies have identified genetic variants associated with HbA1C level. Most of these stu ... Full text Link to item Cite

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.

Journal Article Mol Vis · 2013 PURPOSE: Stickler syndrome is an arthro-ophthalmopathy with phenotypic overlap with Wagner syndrome. The common Stickler syndrome type I is inherited as an autosomal dominant trait, with causal mutations in collagen type II alpha 1 (COL2A1). Wagner syndrom ... Link to item Cite

Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study.

Journal Article Mol Vis · 2013 PURPOSE: Corneal astigmatism is a common eye disorder characterized by irregularities in corneal curvature. Recently, the rs7677751 single nucleotide polymorphism (SNP) at the platelet-derived growth factor receptor alpha (PDGFRA) locus was found to be ass ... Link to item Cite

Genetic loci for retinal arteriolar microcirculation.

Journal Article PLoS One · 2013 Narrow arterioles in the retina have been shown to predict hypertension as well as other vascular diseases, likely through an increase in the peripheral resistance of the microcirculatory flow. In this study, we performed a genome-wide association study in ... Full text Link to item Cite

Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?

Journal Article PLoS One · 2013 INTRODUCTION: C-reactive protein (CRP) levels are associated with cardiovascular disease and systemic inflammation. We assessed whether CRP-associated loci were associated with serum CRP and retinal markers of microvascular disease, in Asian populations. M ... Full text Link to item Cite

Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (Nature Genetics (2013) 45 (314-318))

Journal Article Nature Genetics · January 1, 2013 Full text Cite

Scleral micro-RNA signatures in adult and fetal eyes.

Journal Article PLoS One · 2013 INTRODUCTION: In human eyes, ocular enlargement/growth reflects active extracellular matrix remodeling of the outer scleral shell. Micro-RNAs are small non-coding RNAs that regulate gene expression by base pairing with target sequences. They serve as nodes ... Full text Link to item Cite

Genetic variants near PDGFRA are associated with corneal curvature in Australians.

Journal Article Invest Ophthalmol Vis Sci · October 11, 2012 PURPOSE: Irregularity in the corneal curvature (CC) is highly associated with various eye disorders such as keratoconus and myopia. The sample had limited power to find genomewide significant (5 × 10(-8)) hits but good power for replication. Thus, an attem ... Full text Link to item Cite

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.

Journal Article Hum Genet · September 2012 Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, w ... Full text Link to item Cite

Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.

Journal Article Nat Genet · July 15, 2012 Chronic kidney disease (CKD), impairment of kidney function, is a serious public health problem, and the assessment of genetic factors influencing kidney function has substantial clinical relevance. Here, we report a meta-analysis of genome-wide associatio ... Full text Link to item Cite

Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.

Journal Article Invest Ophthalmol Vis Sci · July 3, 2012 PURPOSE: To investigate the effects of central corneal thickness (CCT)-associated variants on primary open-angle glaucoma (POAG) risk using single nucleotide polymorphisms (SNP) data from the Glaucoma Genes and Environment (GLAUGEN) and National Eye Instit ... Full text Link to item Cite

An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error.

Journal Article Mol Vis · 2012 PURPOSE: To investigate quantitative trait loci linked to refractive error, we performed a genome-wide quantitative trait linkage analysis using single nucleotide polymorphism markers and family data from five international sites. METHODS: Genomic DNA samp ... Link to item Cite

Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility.

Journal Article Mol Vis · 2012 PURPOSE: Myopia, or nearsightedness, is highly prevalent in Asian countries and is considered a serious public health issue globally. High-grade myopia can predispose individuals to myopic maculopathy, premature cataracts, retinal detachment, and glaucoma. ... Link to item Cite

Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.

Journal Article PLoS Genet · 2012 As one of the leading causes of visual impairment and blindness, myopia poses a significant public health burden in Asia. The primary determinant of myopia is an elongated ocular axial length (AL). Here we report a meta-analysis of three genome-wide associ ... Full text Link to item Cite

Common genetic determinants of intraocular pressure and primary open-angle glaucoma.

Journal Article PLoS Genet · 2012 Intraocular pressure (IOP) is a highly heritable risk factor for primary open-angle glaucoma and is the only target for current glaucoma therapy. The genetic factors which determine IOP are largely unknown. We performed a genome-wide association study for ... Full text Link to item Cite

Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.

Journal Article PLoS Genet · December 2011 Corneal astigmatism refers to refractive abnormalities and irregularities in the curvature of the cornea, and this interferes with light being accurately focused at a single point in the eye. This ametropic condition is highly prevalent, influences visual ... Full text Link to item Cite

Retinal nerve fiber layer thickness in children with optic pathway gliomas.

Other Am J Ophthalmol · September 2011 Full text Link to item Cite

Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.

Journal Article Invest Ophthalmol Vis Sci · August 29, 2011 PURPOSE: Myopia is a common vision problem affecting almost one third of the world's population. It can occur as an isolated genetic condition or be associated with other anomalies and/or syndromes. Seventeen myopia loci have been identified on various chr ... Full text Link to item Cite

Ophthalmic phenotypes and the representativeness of twin data for the general population.

Journal Article Invest Ophthalmol Vis Sci · July 29, 2011 PURPOSE: To compare the distributional parameters for a series of ocular biometric traits between twins and their singleton siblings, to evaluate the generalizability of twin data, as used in heritability analyses to the general population. METHODS: A seri ... Full text Link to item Cite

A 7-year-old child seeking treatment for progressive Myopia

Journal Article Journal of Pediatric Ophthalmology and Strabismus · May 1, 2011 Full text Cite

An evidence-based update on myopia and interventions to retard its progression.

Journal Article J AAPOS · April 2011 Myopia is the most common human eye disorder. With its increasing prevalence and earlier age-of-onset in recent birth cohorts, myopia now affects almost 33% of adults in the United States, and epidemic proportions of 85% to 90% adults in Asian cities. Unli ... Full text Link to item Cite

Myopia: Why study the mechanisms of myopia? Novel approaches to risk factors signalling eye growth- how could basic biology be translated into clinical insights? Where are genetic and proteomic approaches leading? How does visual function contribute to and interact with ametropia? Does eye shape matter? Why ametropia at all?

Journal Article Optometry and Vision Science · February 3, 2011 On July 26-29, 2010 the 13th International Myopia Conference was held in Tübingen, Germany and included 17 separate symposia, each with 3-5 presentations. Here, in a single paper, the chairs of those Symposia describe the scientific advances noted at the c ... Full text Cite

Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese.

Journal Article Ophthalmology · February 2011 OBJECTIVE: To determine susceptibility genes for high myopia in Singaporean Chinese. DESIGN: A meta-analysis of 2 genome-wide association (GWA) datasets in Chinese and a follow-up replication cohort in Japanese. PARTICIPANTS AND CONTROLS: Two independent d ... Full text Link to item Cite

Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.

Journal Article Mol Vis · 2011 PURPOSE: To describe an Australian pedigree of European descent with a variable autosomal dominant phenotype of: pediatric cortical cataract (CC), asymmetric myopia with astigmatism, familial exudative vitreoretinopathy (FEVR), and primary open-angle glauc ... Link to item Cite

Optical coherence tomography in the evaluation of neurofibromatosis type-1 subjects with optic pathway gliomas.

Journal Article J AAPOS · December 2010 PURPOSE: Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disorder, with an approximate incidence of 1 in 3,500. Optic pathway gliomas (OPGs) develop in 15% of individuals with NF1, commonly in childhood. OPGs are difficult to detect via a ... Full text Link to item Cite

The accuracy of photoscreening at detecting treatable ocular conditions in children with Down syndrome.

Journal Article J AAPOS · December 2010 BACKGROUND: Children with Down syndrome (DS) have an increased prevalence of ocular disorders, including amblyopia, strabismus, and refractive error. Health maintenance guidelines from the Down Syndrome Medical Interest Group recommend ophthalmologic exami ... Full text Link to item Cite

Prevalence and causes of decreased visual acuity in Singaporean Chinese preschoolers.

Journal Article Br J Ophthalmol · December 2010 AIMS: To describe the prevalence and causes of decreased visual acuity (VA) in Singaporean Chinese children. METHODS: A population-based survey of Singaporean Chinese children aged 6 to 72 months was conducted. Participants underwent an orthoptic evaluatio ... Full text Link to item Cite

Myopia

Journal Article · December 1, 2010 Full text Cite

Is the pediatric quality of life inventory valid for use in preschool children with refractive errors?

Journal Article Optom Vis Sci · November 2010 PURPOSE: To determine the psychometric validity of the pediatric quality of life inventory (PedsQL 4.0) in assessing the impact of refractive errors on health-related quality of life (HRQoL) in preschool children in Singapore. METHODS: Parents of toddlers ... Full text Link to item Cite

Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.

Journal Article PLoS Genet · October 28, 2010 There is increasing evidence that the microcirculation plays an important role in the pathogenesis of cardiovascular diseases. Changes in retinal vascular caliber reflect early microvascular disease and predict incident cardiovascular events. We performed ... Full text Link to item Cite

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.

Journal Article Nat Genet · October 2010 We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[A], odds ratio (OR) = 1.36, P = 5.0 × 10⁻ ... Full text Link to item Cite

A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.

Journal Article Nat Genet · October 2010 Refractive errors are the most common ocular disorders worldwide and may lead to blindness. Although this trait is highly heritable, identification of susceptibility genes has been challenging. We conducted a genome-wide association study for refractive er ... Full text Link to item Cite

A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25.

Journal Article Nat Genet · October 2010 Myopia and hyperopia are at opposite ends of the continuum of refraction, the measure of the eye's ability to focus light, which is an important cause of visual impairment (when aberrant) and is a highly heritable trait. We conducted a genome-wide associat ... Full text Link to item Cite

Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort.

Journal Article Invest Ophthalmol Vis Sci · September 2010 PURPOSE: Evidence from human myopia genetic mapping studies (MYP3 locus), modulated animal models, and observations of glycemic control in humans suggests that insulin-like growth factor (IGF)-1 plays a role in the control of eye growth. This study was con ... Full text Link to item Cite

Support for TGFB1 as a susceptibility gene for high myopia in individuals of Chinese descent.

Journal Article Arch Ophthalmol · August 2010 Full text Link to item Cite

Lumican and muscarinic acetylcholine receptor 1 gene polymorphisms associated with high myopia.

Journal Article Eye (Lond) · August 2010 Full text Link to item Cite

Family history, near work, outdoor activity, and myopia in Singapore Chinese preschool children.

Journal Article Br J Ophthalmol · August 2010 AIMS: To investigate the risk factors for myopia, including near work and outdoor activity, in Singapore Chinese preschool children. METHODS: A cross-sectional study, with disproportionate random sampling by 6-month age groups, of 3009 Singapore Chinese ch ... Full text Link to item Cite

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.

Journal Article Hum Mol Genet · July 1, 2010 Optic nerve assessment is important for many blinding diseases, with cup-to-disc ratio (CDR) assessments commonly used in both diagnosis and progression monitoring of glaucoma patients. Optic disc, cup, rim area and CDR measurements all show substantial va ... Full text Link to item Cite

Prevalence of amblyopia and strabismus in young singaporean chinese children.

Journal Article Invest Ophthalmol Vis Sci · July 2010 PURPOSE. To determine the prevalence of amblyopia and strabismus in young Singaporean Chinese children. METHODS. Enrolled in the study were 3009 Singaporean children, aged 6 to 72 months. All underwent complete eye examinations and cycloplegic refraction. ... Full text Link to item Cite

Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.

Journal Article PLoS Genet · May 13, 2010 Central corneal thickness (CCT), one of the most highly heritable human traits (h(2) typically>0.9), is important for the diagnosis of glaucoma and a potential risk factor for glaucoma susceptibility. We conducted genome-wide association studies in five co ... Full text Open Access Link to item Cite

Hepatocyte growth factor and retinal arteriolar diameter in Singapore Chinese.

Journal Article Ophthalmology · May 2010 OBJECTIVE: To assess if natural genetic variation in hepatocyte growth factor (HGF) is associated with altered retinal vessel diameter. DESIGN: Two-stage cohort study. PARTICIPANTS AND CONTROLS: Discovery set (set 1, n = 682 children) and confirmatory set ... Full text Link to item Cite

Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays.

Journal Article Nucleic Acids Res · May 2010 Determination of copy number variants (CNVs) inferred in genome wide single nucleotide polymorphism arrays has shown increasing utility in genetic variant disease associations. Several CNV detection methods are available, but differences in CNV call thresh ... Full text Open Access Link to item Cite