Article
Ophthalmology
Brian S. Cole, Harini V. Gudiseva, Maxwell Pistilli, Rebecca Salowe, Caitlin P. McHugh, Michael C. Zody, Venkata R. M. Chavali, Gui Shuang Ying, Jason H. Moore, Joan M. O'Brien
Summary: This study examines the association of autosomal ancestry with POAG risk in a large cohort of self-identified African Americans. The results show that a higher degree of African ancestry is associated with an increased risk of POAG. Additionally, it is found that both known POAG single nucleotide polymorphisms and an omnigenic ancestry effect influence POAG risk.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2021)
Review
Medicine, General & Internal
Aditya Belamkar, Alon Harris, Francesco Oddone, Alice Verticchio Vercellin, Anna Fabczak-Kubicka, Brent Siesky
Summary: Primary open-angle glaucoma (POAG) is prevalent in aging Asian populations, with distinctive characteristics and genetic differences compared to other ethnicities. Further research is needed to improve treatment plans for this high prevalence of glaucoma in Asian populations.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Ophthalmology
Manoj Yadav, Aarti Bhardwaj, Anshu Yadav, Rima Dada, Mukesh Tanwar
Summary: Glaucoma is a series of optic diseases that can cause progressive vision loss and total blindness. Primary open-angle glaucoma (POAG) is the most common type. The goal of this study is to explore the role of genes and their variants in the development of POAG.
INDIAN JOURNAL OF OPHTHALMOLOGY
(2023)
Review
Ophthalmology
Manoj Yadav, Aarti Bhardwaj, Anshu Yadav, Rima Dada, Mukesh Tanwar
Summary: Glaucoma is a series of optic diseases that lead to progressive vision loss and total blindness. The most common type is primary open-angle glaucoma (POAG), which is a complex condition influenced by both environmental and genetic factors. The number of glaucoma patients is expected to increase globally, with Asia and Africa being the most affected regions. Research has shown the significant role of genes and their variants in the pathogenesis of POAG.
INDIAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Ophthalmology
Jing Na He, Tsz Kin Ng, Shi Yao Lu, Pancy Oi Sin Tam, Poemen P. Chan, Clement C. Tham, Chi Pui Pang, Li Jia Chen, Wai Kit Chu
Summary: This study investigated the association between the ANGPT2 gene and primary open-angle glaucoma (POAG) in the Chinese population. The results showed that the SNP rs11775442 was associated with normal tension glaucoma (NTG) in the Hong Kong cohort, while rs13269021 was associated with NTG in males in the Shantou cohort. Further studies are needed to confirm the association between the ANGPT2 locus and NTG in Chinese males.
Article
Ophthalmology
Yong Woo Kim, Yun Hwan Lee, Jin-Soo Kim, Jinho Lee, Yu Jeong Kim, Hyun Sub Cheong, Seok Hwan Kim, Ki Ho Park, Dong Myung Kim, Hyuk Jin Choi, Jin Wook Jeoung
Summary: The study validated the effectiveness of six previously known genetic loci related to primary open-angle glaucoma (POAG) in a Korean population. Variants near CDKN2B-AS1 and SIX1/SIX6 may require further investigation to obtain more genetic information on POAG development in this population.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2021)
Review
Genetics & Heredity
Jessica N. N. Cooke Bailey, Kaitlyn L. L. Funk, Lauren A. A. Cruz, Andrea R. R. Waksmunski, Tyler G. G. Kinzy, Janey L. L. Wiggs, Michael A. A. Hauser
Summary: Glaucoma is the primary cause of irreversible blindness worldwide. Primary open-angle glaucoma (POAG), which is more common and severe in individuals of African ancestry, has been historically under-represented in genetic studies. Genetic and polygenic risk scores (GRS, PRS) based on European-descent populations are not applicable to individuals without majority European ancestry. Prioritizing diversity in the discovery of risk variants will improve the performance and utility of GRS and PRS-derived risk estimation, leading to earlier intervention and treatment for POAG.
Article
Medicine, General & Internal
Antonio Maria Fea, Martina Menchini, Alessandro Rossi, Chiara Posarelli, Lorenza Malinverni, Michele Figus
Summary: The study investigated the efficacy and safety of the XEN63 implant in open-angle glaucoma patients, showing significant reduction in intraocular pressure and the need for hypotensive medications, with good short-term safety profile.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Ya-Hui Wei, Yu Cai, Bonnie N. K. Choy, Bai-Bing Li, Ruo-Shi Li, Chen Xing, Xia Wang, Tian Tian, Yuan Fang, Mei Li, Ying-Zi Pan
Summary: NTG patients showed higher DCR values compared to controls, with some DCRs being negatively correlated with CCT and IOP, while others were positively correlated with these factors. The cornea was more deformable in NTG compared to HTG or controls, indicating a potential biomechanical mechanism underlying glaucomatous optic neuropathy in NTG patients.
CHINESE MEDICAL JOURNAL
(2021)
Article
Medicine, General & Internal
Michele Lanza, Angelo Leone, Gabriele Scognamiglio, Luigi Serra, Clemente Maria Iodice, Paolo Melillo, Francesca Simonelli
Summary: This study found no significant differences in the efficacy of first-choice medications for primary open-angle glaucoma, but the efficacy may be influenced by various ocular and systemic features in different groups.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Faisal A. Almobarak, Ahmed Alrubean, Waleed Alsarhani, Abdullah Aljenaidel, Essam A. Osman
Summary: Ultrasound cyclo plasty (UCP) is effective in controlling intraocular pressure (IOP) and reducing the need for antiglaucoma medications in primary open-angle glaucoma (POAG) eyes. However, the success rate is modest, with higher baseline IOP and number of medications associated with a higher risk of failure.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Ophthalmology
Xueqing Li, Wenmin Sun, Xueshan Xiao, Lei Fang, Shiqiang Li, Xing Liu, Qingjiong Zhang
Summary: The study found that biallelic CPAMD8 variants were significantly enriched in patients with primary glaucoma, with mild effects on the phenotype. CPAMD8 showed high mRNA expression in specific eye tissues and protein expression mainly in nonpigmented epithelium of the iris and ciliary process.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Ophthalmology
Yanin Suwan, Masoud Aghsaei Fard, Nantinee Vilainerun, Purit Petpiroon, Apichat Tantraworasin, Chaiwat Teekhasaenee, Robert Ritch, Rahele Kafieh, Sahar Hojati, Wasu Supakontanasan
Summary: This study compared the parapapillary choroidal microvasculature (PPCMv) density between acute primary angle-closure (APAC), primary open-angle glaucoma (POAG) and controls. The results showed that while superficial peripapillary vessels were affected to a similar degree in APAC and POAG, PPCMv drop-out was greater with POAG, suggesting a lesser extent of choroidal vessel density following an acute increase in intraocular pressure before glaucoma develops.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Medicine, General & Internal
Kinga Golaszewska, Iwona Obuchowska, Joanna Konopinska
Summary: This study evaluated the efficacy and safety profile of iStent bypass implantation and ab externo canaloplasty in POAG patients, and found that both procedures effectively reduced intraocular pressure and the need for anti-glaucoma medications.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Ophthalmology
Sarah Zhou, Bruce Burkemper, Anmol A. Pardeshi, Galo Apolo, Grace Richter, Xuejuan Jiang, Mina Torres, Roberta McKean-Cowdin, Rohit Varma, Benjamin Y. Xu
Summary: This study analyzed epidemiological data of populations in Latino and Chinese Americans, and assessed the differences in the roles of refractive error (RE) and ocular biometrics as risk factors for primary open-angle glaucoma (POAG) by race/ethnicity. The results showed that while the risks of high myopia and longer axial length were similar for POAG in Latino and Chinese Americans, high myopia was more prevalent among Chinese Americans, resulting in a narrowed difference in POAG prevalence between the two groups.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2023)
Article
Biochemical Research Methods
Duran Zhao, Johanna L. Jones, Robert J. Gasperini, Jac C. Charlesworth, Guei-Sheung Liu, Kathryn P. Burdon
Summary: Identification of genes causing cataract is crucial for understanding the pathology of inherited pediatric cataract and developing new therapies. This study presents a step-by-step pipeline to evaluate cataract candidate genes in zebrafish using CRISPR-Cas9, offering a simple and efficient method for assessment in basic laboratory settings.
Article
Multidisciplinary Sciences
Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P. Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W. Hewitt, Ayellet Segre, John M. Rouhana, Andrew R. Hamel, Robert P. Igo, Helene Choquet, Ayub Qassim, Navya S. Josyula, Jessica N. Cooke Bailey, Pieter W. M. Bonnemaijer, Adriana Iglesias, Owen M. Siggs, Terri L. Young, Veronique Vitart, Alberta A. H. J. Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B. Melles, K. Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J. Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen, Shi-Song Rong, Tin Aung, Eranga Nishanthie Vithana, Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Michelle K. Lupton, Nicholas G. Martin, Adeyinka Ashaye, Olusola Olawoye, Susan E. Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichiro Kamatani, Masato Akiyama, Yukihide Momozawa, Paul J. Foster, Peng T. Khaw, James E. Morgan, Nicholas G. Strouthidis, Peter Kraft, Jae H. Kang, Chi Pui Pang, Francesca Pasutto, Paul Mitchell, Andrew J. Lotery, Aarno Palotie, Cornelia van Duijn, Jonathan L. Haines, Chris Hammond, Louis R. Pasquale, Caroline C. W. Klaver, Michael Hauser, Chiea Chuen Khor, David A. Mackey, Michiaki Kubo, Ching-Yu Cheng, Jamie E. Craig, Stuart MacGregor, Janey L. Wiggs
Summary: The authors conducted a meta-analysis of genome-wide association studies in 34,179 cases of POAG, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities. Integration of multiple lines of genetic evidence supports the functional relevance of the identified POAG risk loci.
NATURE COMMUNICATIONS
(2021)
Article
Ophthalmology
Lucia Sobrin, Gayatri Susarla, Lynn Stanwyck, John M. Rouhana, Ashley Li, Samuela Pollack, Robert P. Igo, Richard A. Jensen, Xiaohui Li, Maggie C. Y. Ng, Albert Smith, Jane Z. Kuo, Kent D. Taylor, Barry Freedman, Donald W. Bowden, Alan Penman, Ching J. Chen, Jamie E. Craig, Sharon G. Adler, Emily Y. Chew, Mary Frances Cotch, Brian Yaspan, Paul Mitchell, Jie Jin Wang, Barbara E. K. Klein, Tien Y. Wong, Jerome Rotter, Kathyrn P. Burdon, Sudha K. Iyengar, Ayellet Segre
Summary: This study identified functionally related genes associated with diabetic retinopathy risk using gene set enrichment analyses in genome-wide association study meta-analyses. The variants in genes involved in oxidative stress, lipid transport and catabolism, and cell degeneration were found to be enriched for genes associated with DR risk.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2022)
Correction
Ophthalmology
Lucia Sobrin, Gayatri Susarla, Lynn Stanwyck, John M. Rouhana, Ashley Li, Samuela Pollack, Robert P. Igo, Richard A. Jensen, Xiaohui Li, Maggie C. Y. Ng, Albert V. Smith, Jane Z. Kuo, Kent D. Taylor, Barry I. Freedman, Donald W. Bowden, Alan Penman, Ching J. Chen, Jamie E. Craig, Sharon G. Adler, Emily Y. Chew, Mary Frances Cotch, Brian Yaspan, Paul Mitchell, Jie Jin Wang, Barbara E. K. Klein, Tien Y. Wong, Jerome I. Rotter, Kathryn P. Burdon, Sudha K. Iyengar, Ayellet V. Serge
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Rajya L. Gurung, Liesel M. FitzGerald, Ebony Liu, Bennet J. McComish, Georgia Kaidonis, Bronwyn Ridge, Alex W. Hewitt, Brendan J. Vote, Nitin Verma, Jamie E. Craig, Kathryn P. Burdon
Summary: This study identified genetic determinants associated with anti-VEGF treatment response in patients with DME through a genome-wide association study. Multiple genetic loci were found to predict treatment outcomes, potentially leading to personalized treatment approaches for managing DME.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Ophthalmology
Rajya L. Gurung, Liesel M. FitzGerald, Ebony Liu, Bennet J. McComish, Georgia Kaidonis, Bronwyn Ridge, Alex W. Hewitt, Brendan Jt Vote, Nitin Verma, Jamie E. Craig, Kathryn P. Burdon
Summary: The study found that insulin therapy does not affect the effectiveness of anti-VEGF injection treatment for diabetic macular edema.
Article
Ophthalmology
Weixiong He, Xikun Han, Jue-Sheng Ong, Alex W. Hewitt, David A. Mackey, Puya Gharahkhani, Stuart MacGregor
Summary: By utilizing a relatively large dataset, this study identified novel risk loci for keratoconus and enhanced the polygenic risk score models, improving predictions of keratoconus risk.
JAMA OPHTHALMOLOGY
(2022)
Review
Genetics & Heredity
Xin Lin, Yuanhao Yang, Phillip E. Melton, Vikrant Singh, Steve Simpson-Yap, Kathryn P. Burdon, Bruce Taylor, Yuan Zhou
Summary: Advancements in genome sequencing technologies have opened up new possibilities in understanding neurologic diseases and improving diagnostic and management strategies. Whole-genome sequencing (WGS) is a valuable tool in discovering structural variants and improving genetic tests in clinical settings. Ongoing research in structural variations and mutational constraints can contribute to improved variant interpretation and therapeutic development.
NEUROLOGY-GENETICS
(2022)
Article
Genetics & Heredity
Kathryn P. Burdon, Patricia Graham, Johanna Hadler, John D. Hulleman, Francesca Pasutto, Erin A. Boese, Jamie E. Craig, John H. Fingert, Alex W. Hewitt, Owen M. Siggs, Kristina Whisenhunt, Terri L. Young, David A. Mackey, Andrew Dubowsky, Emmanuelle Souzeau
Summary: Standardization of variant curation criteria is crucial for accurate interpretation of genetic results and clinical care. This study developed gene-specific variant curation guidelines for myocilin (MYOC) and piloted them on 81 variants, resulting in a change in classification for 40% of the variants in ClinVar. Functional evidence played a role in the reclassification of 18 variants. These guidelines provide a framework for consistent application of rules in laboratories to improve MYOC genetic testing in the management of glaucoma.
Article
Genetics & Heredity
Emmanuelle Souzeau, Owen M. Siggs, Sean Mullany, Joshua M. Schmidt, Mark M. Hassall, Andrew Dubowsky, Angela Chappell, James Breen, Haae Bae, Jillian Nicholl, Johanna Hadler, Lisa S. Kearns, Sandra E. Staffieri, Alex W. Hewitt, David A. Mackey, Aanchal Gupta, Kathryn P. Burdon, Sonja Klebe, Jamie E. Craig, Richard A. Mills
Summary: This study investigated the diagnostic yield of genetic testing in a specific group of individuals with corneal dystrophy and found that a likely molecular diagnosis was identified in 70.5% of families. The detection rate was higher among individuals with a family history of corneal dystrophy and those who had undergone corneal graft surgery. The study highlights the importance of genetic testing in reaching an accurate diagnosis for corneal dystrophies.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Ophthalmology
Johanna L. Jones, Bennet J. McComish, Sandra E. Staffieri, Emmanuelle Souzeau, Lisa S. Kearns, James E. Elder, Jac C. Charlesworth, David A. Mackey, Jonathan B. Ruddle, Deepa Taranath, John Pater, Theresa Casey, Jamie E. Craig, Kathryn P. Burdon
Summary: This study identified potential disease-causing variants for paediatric cataract through gene screening, expanding our understanding of the genotype-phenotype correlations in cataract-associated genes.
BMJ OPEN OPHTHALMOLOGY
(2022)
Article
Clinical Neurology
Xin Lin, Yuanhao Yang, Melissa Gresle, Gabriel Cuellar-Partida, Xikun Han, Jim Stankovich, Steve Simpson-Yap, Valery Fuh-Ngwa, Jac Charlesworth, Kathryn P. Burdon, Helmut Butzkueven, Bruce Taylor, Yuan Zhou
Summary: This study identifies 39 novel plasma and brain proteins associated with multiple sclerosis onset risk and assesses their expression at tissue and cell level. Almost two-thirds of the identified candidates were also associated with disability progression.
Article
Biology
Anthony M. Musolf, Annechien E. G. Haarman, Robert N. Luben, Jue-Sheng Ong, Karina Patasova, Rolando Hernandez Trapero, Joseph Marsh, Ishika Jain, Riya Jain, Paul Zhiping Wang, Deyana D. Lewis, Milly S. Tedja, Adriana I. Iglesias, Hengtong Li, Cameron S. Cowan, Ginevra Biino, Alison P. Klein, Priya Duggal, David A. Mackey, Caroline Hayward, Toomas Haller, Andres Metspalu, Juho Wedenoja, Olavi Parssinen, Ching-Yu Cheng, Seang-Mei Saw, Dwight Stambolian, Pirro G. Hysi, Anthony P. Khawaja, Veronique Vitart, Christopher J. Hammond, Cornelia M. van Duijn, Virginie J. M. Verhoeven, Caroline C. W. Klaver, Joan E. Bailey-Wilson
Summary: Refractive error is a complex eye condition caused by genetic and environmental factors. Genome-wide association studies have identified common genetic risk factors, but a significant portion of the heritability is still unexplained. By conducting gene-based association tests, we identified 129 unique genes associated with refractive error in a large dataset. Some of the novel candidates, such as PDCD6IP, PER3, and P4HTM, show promise for future functional studies and validation.
COMMUNICATIONS BIOLOGY
(2023)
Review
Ophthalmology
Johanna L. Jones, Kathryn P. Burdon
Summary: Variants in the GJA3 and GJA8 genes are common causes of inherited pediatric cataract, accounting for up to 18% of cases. However, many of these variants lack sufficient evidence of pathogenicity, highlighting the need for standardized functional data to evaluate their specific effects on protein function.
EXPERT REVIEW OF OPHTHALMOLOGY
(2023)
Article
Ophthalmology
Kelsey V. Stuart, Robert N. Luben, Alasdair N. Warwick, Kian M. Madjedi, Praveen J. Patel, Mahantesh I. Biradar, Zihan Sun, Mark A. Chia, Louis R. Pasquale, Janey L. Wiggs, Jae H. Kang, Jihye Kim, Hugues Aschard, Jessica H. Tran, Marleen A. H. Lentjes, Paul J. Foster, Anthony P. Khawaja
Summary: The purpose of this study was to examine the associations between alcohol consumption and glaucoma and related traits, assess whether genetic predisposition to glaucoma modified these associations, and perform MR experiments to investigate causal effects. The findings showed consistent and adverse associations between alcohol intake and glaucoma and related traits, even at levels below the current guidelines in the UK and the US.
OPHTHALMOLOGY GLAUCOMA
(2023)
