Results 61 to 70 of about 426,287 (394)

BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity. Abstract Purpose To report novel BEST1 variants in six Chinese families with bestrophinopathies of two different inheritance modes and analyze the intrafamilial phenotypic diversity.
Shangying Yang, Zhen Li, Wanyu Cheng, Meijiao Ma, Rui Qi, Xue Rui, Yinghua Ren, Xunlun Sheng, Weining Rong   +8 more
wiley   +1 more source

Glaucoma Hot Topics Debate

Philippine Journal of Ophthalmology, 2020
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Maria Hannah Pia De Guzman, MD, DF, Alexander Joseph Reyes, MD, DPBO, Jose Angelo Ferrolino, MD, DPBO, Carlo Josemaria Rubio, MD, DPBO, Rigo Daniel C. Reyes, MD, DPBO, Maria Catherina Coronel-Nasol, MD, DPBO, Jesus Altuna, MD, DPBO, Christine Siguan Bell, MD, DPBO, Denise Polly Chao-Po, MD, DPBO, Pamela Allarey, MD, DPBO, Stelson L. Sia, MD, MHA, FPAO, FPCS, Jose Ma. Martinez, MD, DPBO   +11 more
doaj  

Case Report: Reversal and subsequent return of optic disc cupping in a myocilin (MYOC) gene-associated severe Juvenile Open-Angle Glaucoma (JOAG) patient [version 1; peer review: 2 approved]

F1000Research, 2022
To our knowledge, this case report describes the first instance of reversal of glaucomatous optic nerve cupping in a young adult with a rare form of juvenile open-angle glaucoma (JOAG) associated with a novel variant of the myocilin gene (MYOC).
Sanchay Gupta, Cameron Neeson, Hani El Helwe, Sandy Samuel, Marika Chachanidze, David A. Solá-Del Valle   +5 more
doaj  

Glaucoma - the significant challenge for the healthcare system in Poland

Journal of Education, Health and Sport, 2022
Introduction Glaucoma is a group of optic neuropathies characterized by progressive degeneration of retinal ganglion cells (RGCs) and visual field loss. Glaucoma is the leading cause of irreversible blindness in the world.
Natalia Osial, Agnieszka Kaczyńska, Adrianna Gorecka, Piotr Stępień, Dorota Pożarowska, Tomasz Żarnowski   +5 more
doaj   +1 more source

Circumpapillary OCT-Focused Hybrid Learning for Glaucoma Grading Using Tailored Prototypical Neural Networks [PDF]

arXiv, 2021
Glaucoma is one of the leading causes of blindness worldwide and Optical Coherence Tomography (OCT) is the quintessential imaging technique for its detection. Unlike most of the state-of-the-art studies focused on glaucoma detection, in this paper, we propose, for the first time, a novel framework for glaucoma grading using raw circumpapillary B-scans.
arxiv  

Vitamin B3 modulates mitochondrial vulnerability and prevents glaucoma in aged mice

Science, 2017
Vitamin B3 protects mice from glaucoma Glaucoma is the most common cause of age-related blindness in the United States. There is currently no cure, and once vision is lost, the condition is irreversible. Williams et al.
Pete A. Williams, J. Harder, N. Foxworth, K. E. Cochran, V. Philip, V. Porciatti, O. Smithies, S. John   +7 more
semanticscholar   +1 more source

Assessment of a Segmentation-Free Deep Learning Algorithm for Diagnosing Glaucoma From Optical Coherence Tomography Scans.

JAMA ophthalmology, 2020
Importance Conventional segmentation of the retinal nerve fiber layer (RNFL) is prone to errors that may affect the accuracy of spectral-domain optical coherence tomography (SD-OCT) scans in detecting glaucomatous damage.
A. Thompson, A. Jammal, S. Berchuck, Eduardo B. Mariottoni, F. Medeiros   +4 more
semanticscholar   +1 more source

Long-Term Surgical Outcomes of Glaucoma Drainage Implants in Eyes with Preoperative Intraocular Pressure Less than 19 mmHg

Journal of Ophthalmology
Background. This retrospective review reports on patients who underwent glaucoma drainage implant (GDI) surgery and had baseline intraocular pressure (IOP) of ≤18 mmHg with at least one year of follow-up. Methods.
Shahin Hallaj, Jae-Chiang Wong, Lauren E. Hock, Natasha Nayak Kolomeyer, Aakriti G. Shukla, Michael J. Pro, Marlene R. Moster, Jonathan S. Myers, Reza Razeghinejad, Daniel Lee   +9 more
doaj   +1 more source

Construction of miRNA-mRNA regulatory network indicates potential biomarkers for primary open-angle glaucoma

BMC Medical Genomics, 2023
Background Trabecular meshwork (TM) dysfunction-induced elevation of intraocular pressure has been identified as the main risk factor of irreversible optic nerve injury in Primary open‑angle glaucoma (POAG).
Xiaoyu Zhou, Feng Zhang, Xinyue Zhang, Dengming Zhou, Yang Zhao, Baihua Chen, Xuanchu Duan   +6 more
doaj   +1 more source

Harvard Glaucoma Detection and Progression: A Multimodal Multitask Dataset and Generalization-Reinforced Semi-Supervised Learning [PDF]

arXiv, 2023
Glaucoma is the number one cause of irreversible blindness globally. A major challenge for accurate glaucoma detection and progression forecasting is the bottleneck of limited labeled patients with the state-of-the-art (SOTA) 3D retinal imaging data of optical coherence tomography (OCT).
arxiv