Genetics Of Glaucoma
J. Wiggs, L. Pasquale
Published 2017 · Biology, Medicine
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Genetic and genomic studies, including genome-wide association studies (GWAS) have accelerated the discovery of genes contributing to glaucoma, the leading cause of irreversible blindness world-wide. Glaucoma can occur at all ages, with Mendelian inheritance typical for the rare early onset disease (before age 40) and complex inheritance evident in common adult-onset forms of disease. Recent studies have suggested possible therapeutic targets for some patients with early-onset glaucoma based on the molecular and cellular events caused by MYOC, OPTN and TBK1 mutations. Diagnostic genetic tests using early-onset glaucoma genes are also proving useful for pre-symptomatic disease detection and genetic counseling. Recent GWAS completed for three types of common adult-onset glaucoma have identified novel loci for POAG (primary-open-angle glaucoma) (ABCA1, AFAP1, GMDS, PMM2, TGFBR3, FNDC3B, ARHGEF12, GAS7, FOXC1, ATXN2, TXNRD2); PACG (primary angle-closure glaucoma (EPDR1, CHAT, GLIS3, FERMT2, DPM2-FAM102); and exfoliation syndrome (XFS) glaucoma (CACNA1A). In total sixteen genomic regions have been associated with POAG (including the normal tension glaucoma (NTG) subgroup), 8 with PACG and 2 with XFS. These studies are defining important biological pathways and processes that contribute to disease pathogenesis.
This paper references
Inhaled corticosteroids, family history, and risk of glaucoma.
P. Mitchell (1999)
Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11.
M. Othman (1998)
Identification of a Gene That Causes Primary Open Angle Glaucoma
E. Stone (1997)
Risk for Exfoliation Syndrome in Women With Pelvic Organ Prolapse : A Utah Project on Exfoliation Syndrome (UPEXS) Study.
Barbara M. Wirostko (2016)
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
Andrew C. Elden (2010)
Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma.
J. Wiggs (1998)
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.
N. Jacobson (2001)
SQSTM1 Mutations and Glaucoma
T. Scheetz (2016)
Family history and risk of primary open angle glaucoma. The Baltimore Eye Survey.
J. Tielsch (1994)
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
D. Nishimura (1998)
NF-κB Mediates Tumor Necrosis Factor α-Induced Expression of Optineurin, a Negative Regulator of NF-κB
C. Sudhakar (2009)
Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma
G. Thorleifsson (2007)
Transcellular degradation of axonal mitochondria
Chung-ha O. Davis (2014)
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
A. Vincent (2002)
Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma.
D. Lam (2000)
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma
P. Gharahkhani (2014)
Demographic and geographic features of exfoliation glaucoma in 2 United States-based prospective cohorts.
J. Kang (2012)
ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.
Henriët Springelkamp (2015)
Oxidative stress induces
W. J. Lin (2014)
Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice
B. Chang (1999)
Exfoliation syndrome: assembling the puzzle pieces
L. Pasquale (2016)
Altered secretion of a TIGR/MYOC mutant lacking the olfactomedin domain.
M. Caballero (2000)
PAX6 mutations reviewed.
Jane Prosser (1998)
Cellular and molecular biology of optineurin.
Hongyu Ying (2012)
Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC.
J. Wiggs (2001)
Common Variants at 9p21 and 8q22 Are Associated with Increased Susceptibility to Optic Nerve Degeneration in Glaucoma
J. Wiggs (2012)
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma.
M. F. Adam (1997)
Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.
S. Monemi (2005)
Complex disorders in ophthalmology.
J. Wiggs (1995)
The human PAX6 gene is mutated in two patients with aniridia
T. Jordan (1992)
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
Ching-Yu Cheng (2013)
Structural basis for phosphorylation-triggered autophagic clearance of Salmonella.
V. Rogov (2013)
Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.
Keri F. Allen (2015)
Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma
T. Aung (2002)
Matrix metalloproteinases and tumor necrosis factor α in glaucomatous optic nerve head
X. Yan (2000)
A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12.
J. Wiggs (2004)
Collaborative Normal Tension Glaucoma Study
D. R. Anderson (2003)
in response to multiple noxious stimuli in retinal ganglion cells
A. P. Khawaja (2016)
Ethnicity‐Based Differences in the Association of LOXL1 Polymorphisms with Pseudoexfoliation/Pseudoexfoliative Glaucoma: A Meta‐Analysis
P. Founti (2015)
ERBLICHES JUGENDLICHES GLAUKOM
Fredrik Berg (1932)
Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region.
M. Sarfarazi (1998)
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4
J. Murray (1992)
Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin
T. Rezaie (2002)
ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma
Monisha E. Nongpiur (2014)
Caveolin-1 facilitates internalization and degradation of ABCA1 and probucol oxidative products interfere with this reaction to increase HDL biogenesis.
Rui Lu (2016)
Family history is a strong risk factor for prevalent angle closure in a South Indian population.
S. Kavitha (2014)
Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice
M. G. Anderson (2002)
Familial occurrence of pseudoexfoliation in Canada.
K. Damji (1999)
Glaucoma Genes and Mechanisms.
J. Wiggs (2015)
Mitochondrial thioredoxin in regulation of oxidant‐induced cell death
Y. Chen (2006)
Hyperhomocystinemia in Pseudoexfoliation Glaucoma
I. Leibovitch (2003)
Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region.
D. Stoilova (1996)
A trabecular meshwork glucocorticoid response (TIGR) gene mutation affects translocational processing.
C. C. Zimmerman (1999)
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
E. Cirulli (2015)
Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis.
Yih-Chung Tham (2014)
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
Guðmar Þorleifsson (2010)
A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region.
O. Trifan (1998)
Genotype–phenotype analysis of SNPs associated with primary angle closure glaucoma (rs1015213, rs3753841 and rs11024102) and ocular biometry in the EPIC-Norfolk Eye Study
A. Day (2013)
Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.
Carla Bidinost (2006)
LOXL1 promoter haplotypes are associated with exfoliation syndrome in a U.S. Caucasian population.
B. Fan (2011)
The choroid is thicker in angle closure than in open angle and control eyes.
K. Arora (2012)
GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36.
M. Wirtz (1999)
A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36.
J. S. Andersen (1997)
Pseudoexfoliation syndrome and aneurysms of the abdominal aorta
S. Schumacher (2001)
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region.
A. N. Akarsu (1996)
Demographic and geographical features of exfoliation glaucoma in two United States-based prospective
J. H. Kang (2012)
Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma.
Y. Minegishi (2013)
The definition and classification of glaucoma in prevalence surveys
P. Foster (2002)
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
J. Fingert (1999)
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
B. A. Bejjani (2000)
Linkage of Autosomal Recessive Primary Congenital Glaucoma to the GLC3A Locus in Roms (Gypsies) from Slovakia
M. Plásilová (1998)
Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry.
E. Souzeau (2013)
Association of Daily Dosage and Type of Statin Agent With Risk of Open-Angle Glaucoma
N. Talwar (2017)
Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium.
A. Nicoletti (1995)
HEREDITARY JUVENILE GLAUCOMA SIMPLEX
R. H. Courtney
Privacy rules blindside French glaucoma effort.
A. Dorozynski (1991)
INTERNUCLEAR OPHTHALMOPLEGIA AND PARALYSIS OF HORIZONTAL GAZE
P. Enoksson (1965)
THE HEREDITY OF GLAUCOMA
E. Goldschmidt (1973)
The development of microneovascular changes in the iris in pseudoexfoliation of the lens capsule.
A. Brooks (1987)
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.
W. Alward (2003)
HEREDITARY GLAUCOMA IN A PEDIGREE OF THREE GENERATIONS
T. D. Allen (1942)
Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma.
G. Zode (2012)
Regulation of lysyl oxidase-like 1 (LOXL1) and elastin-related genes by pathogenic factors associated with pseudoexfoliation syndrome.
M. Zenkel (2011)
A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma
B. Nemesure (2003)
A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping.
R. Kubota (1997)
Immunohistochemical localization of basement membrane components in pseudoexfoliation material of the lens capsule.
U. Schloetzer-Schrehardt (1992)
Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq.
J. Richards (1994)
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.
D. Nishimura (2001)
Cosegregation of open-angle glaucoma and the nail-patella syndrome.
P. Lichter (1997)
Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma
E. Vithana (2012)
A cellular assay distinguishes normal and mutant TIGR/myocilin protein.
Z. Zhou (1999)
Phosphorylation of OPTN by TBK1 enhances its binding to Ub chains and promotes selective autophagy of damaged mitochondria
Benjamin Richter (2016)
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
B. A. Bejjani (1998)
In vitro localization of TIGR/MYOC in trabecular meshwork extracellular matrix and binding to fibronectin.
M. Filla (2002)
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
C. Khor (2016)
Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses
A. Khawaja (2016)
Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma
Yuhui Liu (2004)
Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals.
E. Souzeau (2017)
FAMILY STUDY OF PSEUDOEXFOLIATION AND GLAUCOMA
A. Tarkkanen (1965)
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
K. Burdon (2011)
Association of CAV 1 / CAV 2 genomic variants with primary open - angle glaucoma overall and by gender and pattern of visual field loss
S. J. Loomis (2014)
Distribution of myocilin and extracellular matrix components in the juxtacanalicular tissue of human eyes.
J. Ueda (2002)
Inheritance and the pigmentary dispersion syndrome.
R. Mandelkorn (1983)
Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function
B. Kim (2001)
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.
J. Fingert (2011)
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.
G. Zode (2011)
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.
Mona S Awadalla (2014)
Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31
Val C. Sheffield (1993)
A second locus for Rieger syndrome maps to chromosome 13q14.
J. C. Phillips (1996)
Tank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis).
John H. Fingert (2016)
A common variant near TGFBR3 is associated with primary open angle glaucoma
Zongtang Li (2015)
Krukenberg's spindles and primary open-angle glaucoma.
B. Becker (1966)
Exfoliation syndrome: a disease with an environmental component
S. Dewundara (2015)
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.
O. Sundin (2005)
Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss.
S. Loomis (2014)
Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil
D. Sena (2004)
Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma
S. Morton (2008)
Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene.
T. Aung (2005)
Altered gene expression in lymphocytes of patients with normal-tension glaucoma
O. Golubnitschaja-Labudova (2000)
Autosomal recessive bestrophinopathy associated with angle-closure glaucoma
Claire E. Crowley (2014)
Clinical and Genetic Characteristics of Primary Juvenile-Onset Open-Angle Glaucoma (JOAG)
A. Turalba (2008)
Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.
J. Craig (2001)
Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.
I. Stoilov (1998)
Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31.
J. Wiggs (1995)
2016) Tank-binding kinase 1 (TBK1) gene and open-angle glaucomas (An American Ophthalmological Society thesis)
J. H. Fingert (2016)
Natural history of normal-tension glaucoma.
D. Anderson (2001)
Pseudoexfoliative fibrillopathy in visceral organs of a patient with pseudoexfoliation syndrome.
B. Streeten (1992)
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
E. Semina (1996)
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25.
A. Mears (1996)
Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.
M. Wirtz (1997)
Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.
A. Hewitt (2008)
Distribution of Optineurin Sequence Variations in an Ethnically Diverse Population of Low-tension Glaucoma Patients From the United States
M. Hauser (2006)
Nailfold capillary morphology in exfoliation syndrome
C. Cousins (2017)
Structural basis for misfolding in myocilin-associated glaucoma.
R. Donegan (2015)
Complex genetics of complex traits: the case of primary open‐angle glaucoma
A. Hewitt (2006)
Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma.
M. Hauser (2006)
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21.
I. Stoilov (1997)
Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism.
I. Jansson (2001)
Clinical and genetic characteristics of primary juvenile-onset open-angle glaucoma
A. V. Turalba (2008)
Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma
Y. Chen (2014)
Evaluation of the Myocilin Mutation Gln368Stop Demonstrates Reduced Penetrance for Glaucoma in European Populations.
Abhishek Nag (2017)
Genetic factors in open‐angle (simple and capsular) glaucoma
J. Teikari (1987)
Modification of Ocular Defects in Mouse Developmental Glaucoma Models by Tyrosinase
R. Libby (2003)
Anterior segment dysgenesis and the developmental glaucomas are complex traits.
D. Gould (2002)
Pseudoexfoliation as a risk factor for peripheral vascular disease: a case-control study
M. Praveen (2011)
A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.
W. Osman (2012)
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome
T. Aung (2015)
Genome-wide scan for adult onset primary open angle glaucoma.
J. Wiggs (2000)
Relation between time spent outdoors and exfoliation glaucoma or exfoliation glaucoma suspect.
J. Kang (2014)
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
J. Yardley (2004)
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
T. Glaser (1994)
Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma.
A. Johnson (1993)
Oxidative stress induces autophagy in response to multiple noxious stimuli in retinal ganglion cells
Wen-jian Lin (2014)
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open angle glaucoma
J. C. Bailey (2016)
Twin heritability study of the effect of corticosteroids on intraocular pressure.
J. Schwartz (1972)
Tumor necrosis factor‐α: A potentially neurodestructive cytokine produced by glia in the human glaucomatous optic nerve head
Liya Yuan (2000)
Exclusion of chromosome 1q21-q31 from linkage to three pedigrees affected by the pigment-dispersion syndrome.
C. Paglinauan (1995)
Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity.
M. Sarfarazi (1995)
Asymmetric pigment dispersion syndrome.
M. Kaiser-Kupfer (1983)
Glaucoma family study.
B. Becker (1960)
A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene
T. Aung (2001)
Pseudoexfoliation, an environmental disease?
H. Taylor (1979)
Influence of Family History as a Risk Factor on Primary Angle Closure and Primary Open Angle Glaucoma in a Chinese population
Xiangmei Kong (2011)
Family studies in glaucoma.
E. Perkins (1974)
The heritability and sibling risk of angle closure in Asians.
N. Amerasinghe (2011)
Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma.
J. Wiggs (2003)
Defects in autophagy caused by glaucoma-associated mutations in optineurin.
Kapil Sirohi (2016)
Molecular genetics of Axenfeld-Rieger malformations.
M. Lines (2002)
Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds
D. Ahram (2015)
This paper is referenced by
The Smad2/3/4 complex binds miR-139 promoter to modulate TGFβ-induced proliferation and activation of human Tenon's capsule fibroblasts through the Wnt pathway.
Mi Deng (2019)
Molecular Classification and Comparative Taxonomics of Foveal and Peripheral Cells in Primate Retina
Yi-Rong Peng (2019)
Is primary open-angle glaucoma an ocular manifestation of systemic disease?
Stéphanie Wey (2019)
Mendelian genes in primary open angle glaucoma.
Nathan C. Sears (2019)
Neuroprotection in glaucoma: recent advances and clinical translation
Chelsea Guymer (2019)
Primary open-angle glaucoma: on the development of novel therapeutic approaches
Darragh E. Crosbie (2018)
Effect of TXNRD2 rs35934224, FOXC1 rs2745599 and rs984253 genetic polymorphisms combinations on the development of primary open-angle glaucoma and their degree of association with the disease
N. V. Malachkova (2018)
The Genetic Influence on Corticosteroid-Induced Ocular Hypertension: A Field Positioned for Discovery.
Weilin Chan (2019)
Crystal structures of human lysosomal EPDR1 reveal homology with the superfamily of bacterial lipoprotein transporters.
Yong Wei (2019)
Eye Care Trends in Young Adults.
Abhimanyu S Ahuja (2019)
Reverse engineering glaucoma
Karen Leah Lester (2018)
Resource Molecular Classification and Comparative Taxonomics of Foveal and Peripheral Cells in Primate Retina Graphical
Yi-Rong Peng (2019)
Glaucoma as a Neurodegenerative Disease Caused by Intrinsic Vulnerability Factors
Ana Artero-Castro (2020)
Glaucomagenesis following ionizing radiation exposure.
N. Hamada (2019)
Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.
Congcong Guo (2019)
Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis.
Bao Jian Fan (2019)
Update on the genetics of primary open-angle glaucoma.
Hannah Youngblood (2019)
Genomic loci modulating retinal ganglion cell death following elevated IOP in the mouse
Felix L. Struebing (2018)
Precision medicine to prevent glaucoma-related blindness
S. Moroi (2019)
Chromatin interactions and expression quantitative trait loci reveal genetic drivers of multimorbidities
Tayaza Fadason (2018)
Cholinergic nervous system and glaucoma: From basic science to clinical applications
M. Faiq (2019)
Heritability of glaucoma and glaucoma-related endophenotypes: Systematic review and meta-analysis.
Nigus Gebremedhin Asefa (2019)
A Multi-Locus Genetic Risk Score for Primary Open-Angle Glaucoma (POAG) Variants Is Associated with POAG Risk in a Mediterranean Population: Inverse Correlations with Plasma Vitamin C and E Concentrations
Vicente Zanón-Moreno (2017)
Mouse γ-Synuclein Promoter-Mediated Gene Expression and Editing in Mammalian Retinal Ganglion Cells
Qizhao Wang (2020)
Pectinate ligament dysplasia and primary glaucoma in dogs : investigating prevalence and identifying genetic risk factors
J. A. C. Oliver (2019)
Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma
A. Khawaja (2018)
Long-Term Follow-Up of Normal Tension Glaucoma Patients With TBK1 Gene Mutations in One Large Pedigree.
Tyler S. Quist (2020)
Stable calcium-free myocilin olfactomedin domain variants reveal challenges in differentiating between benign and glaucoma-causing mutations
S. Hill (2019)
Genetic Architecture of Primary Open-Angle Glaucoma in Individuals of African Descent: The African Descent and Glaucoma Evaluation Study III.
K. Taylor (2019)
Integration of eQTL and a Single-Cell Atlas in the Human Eye Identifies Causal Genes for Age-Related Macular Degeneration.
Luz D. Orozco (2020)
Cell atlas of aqueous humor outflow pathways in eyes of humans and four model species provides insight into glaucoma pathogenesis
Tavé van Zyl (2020)
Glaucoma: The silent thief of sight
Davide Consoli (2015)See more