Article
Medicine, General & Internal
Urszula Lukasik, Dominika Wrobel-Dudzinska, Jaromir Jarecki, Karolina Gasinska, Tomasz Zarnowski, Anna Swiech, Ewa Kosior-Jarecka
Summary: The aim of this study was to compare the results of OCTA and OCT examinations in patients with NTG and HTG at the early stage of glaucoma. The study found that the only statistical difference between early NTG and HTG in terms of RNFL thickness was observed in the temporal sector, with thinner values in the NTG group. There were no statistical differences between early NTG and HTG in terms of OCTA results.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Ophthalmology
Austin R. Fox, John H. Fingert
Summary: Glaucoma is a leading cause of irreversible blindness worldwide, characterized by optic nerve damage and visual field defects. While elevated intraocular pressure (IOP) is a significant risk factor, normal tension glaucoma (NTG) can occur within the normal range of IOP. Genetic mutations in optineurin (OPTN), TANK binding kinase 1 (TBK1), and myocilin (MYOC) have been identified as the primary causes of NTG. In this review, we examine pedigree studies and clinical features of NTG associated with these mutations.
PROGRESS IN RETINAL AND EYE RESEARCH
(2023)
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
Hideki Mizohata, Kengo Ikesugi, Mineo Kondo
Summary: Frequent self-measurements of intraocular pressure can effectively evaluate the IOP-lowering effect of medications in patients with normal tension glaucoma.
Article
Health Care Sciences & Services
Wei-Yang Lu, Ci-Wen Luo, Shyan-Tarng Chen, Yu-Hsiang Kuan, Shun-Fa Yang, Han-Yin Sun
Summary: The study found that comorbidities such as hypotension, sleep disturbances, peptic ulcers, and allergic rhinitis are more highly associated with NTG than POAG.
Article
Biochemistry & Molecular Biology
Salah Edden Amini, Sophie Emilie Bresson, Jerome Ruzzin
Summary: This study demonstrates that specific deletion of Nr1i2 in the intestinal epithelium does not cause major intestinal damages in mice during both steady-state and inflammatory conditions. The role of Nr1i2 in intestinal homeostasis and inflammation needs further investigation.
Article
Biochemistry & Molecular Biology
Salah Edden Amini, Sophie Emilie Bresson, Jerome Ruzzin
Summary: Nr1i2, a nuclear receptor known for its role in xenobiotic detoxification, may also regulate intestinal homeostasis and inflammation. In this study, researchers generated intestinal epithelial-specific Nr1i2 knockout mice and found that the deletion of Nr1i2 in the intestine did not cause major damages during steady-state and inflammatory conditions. The expression of genes involved in inflammation, tight and adherens junctions, proliferation, glucose, and lipid metabolism was comparable between the knockout mice and control mice.
Article
Genetics & Heredity
Elana Meer, Tomas S. Aleman, Ahmara G. Ross
Summary: Patients with pathogenic variation in the WDR36 gene exhibit severe retinal dysfunction, vision loss, visual field defects and normal intraocular pressures, suggesting a possible normal tension glaucoma. This pattern resembles some of the findings of an animal model of WDR36-associated POAG, indicating a mechanism of disease involving retina-wide inner retinal dysfunction and neurodegeneration. Further detailed structural and functional characterizations of these patients are needed to confirm these findings.
Article
Ophthalmology
David Kuerten, Matthias Fuest, Peter Walter, Babac Mazinani, Niklas Plange
Summary: The study found a relationship between retinal blood flow alterations and contrast sensitivity loss in patients with normal tension glaucoma, indicating a disease-related link between retinal blood flow and visual function. However, this association was not observed in healthy volunteers.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2021)
Article
Ophthalmology
Bryan Chin Hou Ang, Wenqi Chiew, Vivien Cherng Hui Yip, Chun Hau Chua, Wei Shan Han, Ivan O'Neill C. Tecson, Jeanne Joyce Ogle, Boon Ang Lim, Owen Kim Hee, Elton Lik Yong Tay, Vernon Khet Yau Yong, Hon Tym Wong, Leonard Wei Leon Yip
Summary: This prospective study evaluated the surgical outcomes of combined iStent inject implantation and phacoemulsification in Asian eyes with normal tension glaucoma (NTG) for 12 months. The results showed a significant reduction in intraocular pressure (IOP) and glaucoma medications, as well as improvements in visual acuity.
Article
Cell Biology
Ying Cheng, Shen Wu, Xuejing Yan, Qian Liu, Danting Lin, Jingxue Zhang, Ningli Wang
Summary: The characteristics of mutation myocilin proteins and glaucoma pathological phenotype were investigated in transgenic mice with full-length human Pro370Leu mutant myocilin gene (Tg-MYOCP370L). The Tg-MYOCP370L mice exhibited features of open-angle glaucoma, including elevated intraocular pressure, activated retinal glial cells, loss of retinal ganglion cells, and impaired visual function.
CELLULAR AND MOLECULAR NEUROBIOLOGY
(2023)
Article
Multidisciplinary Sciences
Joong Won Shin, Youn Hye Jo, Min Kyung Song, Hun Jae Won, Michael S. Kook
Summary: The study found that nighttime diastolic blood pressure dip, visual field mean deviation, and daytime peak intraocular pressure are closely associated with the presence of choroidal microvasculature dropout in normal-tension glaucoma patients.
SCIENTIFIC REPORTS
(2021)
Article
Medicine, General & Internal
Seung Hyen Lee, Tae-Woo Kim, Eun Ji Lee, Hyunkyung Kil
Summary: This study found that the optic nerve sheath diameter (ONSD) in normal-tension glaucoma (NTG) patients was smaller than in healthy individuals, and there was a negative correlation between ONSD and the curvature index of the lamina cribrosa (LC). These results suggest that cerebrospinal fluid pressure, which is indirectly predicted by ONSD, may affect the morphology of the LC and play a role in the pathogenesis of glaucoma.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Ophthalmology
Yu Meng Wang, Ruyue Shen, Timothy P. H. Lin, Poemen P. Chan, Mandy O. M. Wong, Noel C. Y. Chan, Fangyao Tang, Alexander K. N. Lam, Dexter Y. L. Leung, Clement C. Y. Tham, Carol Y. Cheung
Summary: This study aimed to determine the relationship between optical coherence tomography angiography (OCTA) metrics and visual field (VF) progression in eyes with normal tension glaucoma (NTG). The findings showed that lower superotemporal cpVD measured from OCTA in the peripapillary region improves the prediction of VF deterioration in NTG.
ACTA OPHTHALMOLOGICA
(2022)
Article
Medicine, General & Internal
Soo Ji Jeon, Kyoung In Jung, Chan Kee Park, Hae-Young Lopilly Park
Summary: This study found a significant association between macular vessel density (VD) and N95 amplitude from pattern electroretinogram (PERG) in patients with normal tension glaucoma (NTG). This correlation was most prominent in early glaucoma and differed from other structural or functional parameters.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Ophthalmology
Andrew P. Voigt, Nathaniel K. Mullin, Edwin M. Stone, Budd A. Tucker, Todd E. Scheetz, Robert F. Mullins
Summary: Gene expression studies provide valuable insights into cell function, and with the advancement of single-cell RNA sequencing technology, researchers are able to achieve unparalleled resolution in observing gene expression at the level of individual cells. This technology has been widely adopted in vision research, leading to significant discoveries and advancements in understanding retinal physiology and disease.
PROGRESS IN RETINAL AND EYE RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Matthew R. Cring, Kacie J. Meyer, Charles C. Searby, Adam Hedberg-Buenz, Michael Cave, Michael G. Anderson, Kai Wang, Val C. Sheffield
Summary: Bardet-Biedl syndrome (BBS) is a rare ciliopathy with no current effective treatments. This study shows that ectopic expression of the BBS1 gene rescues male infertility in BBS patients, but does not protect against retinal degeneration. BBS is a genetically heterogeneous disease with various clinical features.
Review
Cell Biology
Andrew E. Pouw, Mark A. Greiner, Razek G. Coussa, Chunhua Jiao, Ian C. Han, Jessica M. Skeie, John H. Fingert, Robert F. Mullins, Elliott H. Sohn
Summary: This review highlights the crucial role of the extracellular matrix (ECM) in maintaining normal physiologic functions and regulating processes such as angiogenesis and intraocular pressure in the eye. Various pathways and key factors related to ECM in the eye are discussed, along with alterations contributing to disease states like wound healing, diabetes-related complications, and age-related macular degeneration.
Article
Biotechnology & Applied Microbiology
Carly van der Heide, Wes Goar, Kacie J. Meyer, Wallace L. M. Alward, Erin A. Boese, Nathan C. Sears, Ben R. Roos, Young H. Kwon, Adam P. DeLuca, Owen M. Siggs, Claudia Gonzaga-Jauregui, Val C. Sheffield, Kai Wang, Edwin M. Stone, Robert F. Mullins, Michael G. Anderson, Bao Jian Fan, Robert Ritch, Jamie E. Craig, Janey L. Wiggs, Todd E. Scheetz, John H. Fingert
Summary: This study aimed to discover genes causing pigment dispersion syndrome (PDS) by analyzing exome data of patients and controls, but did not find significant enrichment of mutations in melanosome-related genes in PDS patients. Conflicting data about the pathogenicity of MRAP mutations were also found, indicating the complex genetic basis of PDS that is not easily elucidated through exome analyses.
Article
Ophthalmology
Elin Holm, Malan Holm, Kaj Vilhelmsen, Gudrid Andorsdottir, Henrik Vorum, Allie Simpson, Benjamin R. Roos, John H. Fingert, Thomas Rosenberg
Summary: This study investigated the prevalence of open-angle glaucoma (OAG) in the genetically isolated population of the Faroe Islands and examined the role of known glaucoma-causing genes in Faroese OAG. The results revealed a prevalence of 1.07% for OAG in the Faroe Islands and suggested the involvement of different genes in the pathogenesis of glaucoma in this population.
JOURNAL OF GLAUCOMA
(2022)
Article
Biochemical Research Methods
Kyungmoo Lee, Alexis K. Warren, Michael D. Abramoff, Andreas Wahle, S. Scott Whitmore, Ian C. Han, John H. Fingert, Todd E. Scheetz, Robert F. Mullins, Milan Sonka, Elliott H. Sohn
Summary: This study utilized a graph-theoretic approach to automatically segment choroidal layers from OCT volumes, showing small average unsigned/signed border positioning and thickness errors, with good repeatability and reproducibility. The proposed method outperformed previous methods and can reliably measure choroidal thickness across different OCT platforms.
JOURNAL OF NEUROSCIENCE METHODS
(2021)
Article
Multidisciplinary Sciences
Nickolas A. Boehme, Adam Hedberg-Buenz, Nicole Tatro, Michael Bielecki, William C. Castonguay, Todd E. Scheetz, Michael G. Anderson, Laura M. Dutca
Summary: In experiments, blast exposure was found to cause damage to retinal ganglion cells in mice, starting with the loss of RGC markers and damage to RGC axons. Over time, this damage worsened, ultimately leading to the loss of RGC somas and axons.
SCIENTIFIC REPORTS
(2021)
Article
Ophthalmology
Carly J. van der Heide, Kacie J. Meyer, Adam Hedberg-Buenz, Danielle Pellack, Nicholas Pomernackas, Hannah E. Mercer, Michael G. Anderson
Summary: The first part of the study focused on the rapid loss of BRN3A+ nuclei in nee mice, a model of congenital glaucoma. The second part explored the correlation between RGC density and nuclear size in glaucomatous mice, revealing two events influencing nuclear dynamics. High RGC density was associated with larger nuclei, while low RGC density correlated with smaller nuclei, particularly in glaucomatous nee mutants.
EXPERIMENTAL EYE RESEARCH
(2021)
Article
Cell Biology
Guillermo L. Lehmann, Michael Ginsberg, Daniel J. Nolan, Cristina Rodriguez, Jose Martinez-Gonzalez, Shemin Zeng, Andrew P. Voigt, Robert F. Mullins, Shahin Rafii, Enrique Rodriguez-Boulan, Ignacio Benedicto
Summary: A2M, a protease inhibitor, is found to be expressed in endothelial cells of the human eye choroid. The expression of A2M is induced by retinal pigment epithelium (RPE)-conditioned medium, with VEGF-A playing a key role. Furthermore, the inhibition of A2M leads to the restoration of gelatinase activity in culture supernatants. This study provides important insights into the alterations in choroidal ECM and visual function due to dysfunctional RPE or choroidal blood vessels.
Article
Ophthalmology
Erin A. Boese, Wallace L. M. Alward, Young H. Kwon, Ben R. Roos, Edwin M. Stone, Todd. E. Scheetz, John H. Fingert
Summary: Through sequencing analysis, it was found that THBS1 gene mutations are not a common cause of primary congenital glaucoma in patients from Iowa, and may only be a rare cause of the disease overall.
JOURNAL OF GLAUCOMA
(2023)
Review
Ophthalmology
Austin R. Fox, John H. Fingert
Summary: Glaucoma is a leading cause of irreversible blindness worldwide, characterized by optic nerve damage and visual field defects. While elevated intraocular pressure (IOP) is a significant risk factor, normal tension glaucoma (NTG) can occur within the normal range of IOP. Genetic mutations in optineurin (OPTN), TANK binding kinase 1 (TBK1), and myocilin (MYOC) have been identified as the primary causes of NTG. In this review, we examine pedigree studies and clinical features of NTG associated with these mutations.
PROGRESS IN RETINAL AND EYE RESEARCH
(2023)
Article
Ophthalmology
Colleen M. McDowell, Krishnakumar Kizhatil, Michael H. Elliott, Darryl R. Overby, Joseph Van Batenburg-Sherwood, J. Cameron Millar, Markus H. Kuehn, Gulab Zode, Ted S. Acott, Michael G. Anderson, Sanjoy K. Bhattacharya, Jacques A. Bertrand, Terete Borras, Diane E. Bovenkamp, Lin Cheng, John Danias, Michael Lucio De Ieso, Yiqin Du, Jennifer A. Faralli, Rudolf Fuchshofer, Preethi S. Ganapathy, Haiyan Gong, Samuel Herberg, Humberto Hernandez, Peter Humphries, Simon W. M. John, Paul L. Kaufman, Kate E. Keller, Mary J. Kelley, Ruth A. Kelly, David Krizaj, Ajay Kumar, Brian C. Leonard, Raquel L. Lieberman, Paloma Liton, Yutao Liu, Katy C. Liu, Navita N. Lopez, Weiming Mao, Timur Mavlyutov, Fiona McDonnell, Gillian J. McLellan, Philip Mzyk, Andrews Nartey, Louis R. Pasquale, Gaurang C. Patel, Padmanabhan P. Pattabiraman, Donna M. Peters, Vijaykrishna Raghunathan, Ponugoti Vasantha Rao, Naga Rayana, Urmimala Raychaudhuri, Ester Reina-Torres, Ruiyi Ren, Douglas Rhee, Uttio Roy Chowdhury, John R. Samples, E. Griffen Samples, Najam Sharif, Joel S. Schuman, Val C. Sheffield, Cooper H. Stevenson, Avinash Soundararajan, Preeti Subramanian, Chenna Kesavulu Sugali, Yang Sun, Carol B. Toris, Karen Y. Torrejon, Amir Vahabikashi, Janice A. Vranka, Ting Wang, Colin E. Willoughby, Chen Xin, Hongmin Yun, Hao F. Zhang, Michael P. Fautsch, Ernst R. Tamm, Abbot F. Clark, C. Ross Ethier, W. Daniel Stamer
Summary: This article highlights the importance of using mice as a valuable model system for studying conventional outflow resistance and intraocular pressure. It also outlines the minimum acceptable standards for developing, characterizing, and utilizing mouse models of open-angle ocular hypertension. These standards are expected to enhance scientific rigor and replicability of research findings.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Article
Ophthalmology
Max K. Colbert, Leon C. Ho, Yolandi van der Merwe, Xiaoling Yang, Gillian J. McLellan, Samuel A. Hurley, Aaron S. Field, Hongmin Yun, Yiqin Du, Ian P. Conner, Carlos Parra, Muneeb A. Faiq, John H. Fingert, Gadi Wollstein, Joel S. Schuman, Kevin C. Chan
Summary: Using diffusion tensor imaging (DTI), this study characterized the visual pathway integrity of five glaucoma animal models, revealing that chronic IOP elevation resulted in decreased fractional anisotropy and increased radial diffusivity along the optic nerve or optic tract. Variation in axial diffusivity effects between models suggests different aspects of pathological changes over time and with severity.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2021)
Article
Ophthalmology
Matthew M. Harper, Nickolas Boehme, Laura M. Dutca, Michael G. Anderson
Summary: This study examined the influence of genetic background on the retinal ganglion cell (RGC) response to blast-mediated traumatic brain injury (TBI) in mice. It found significant differences in RGC response between different genetic backgrounds, indicating a strong dependency of RGC response on genetic factors.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2021)