Results 1 to 10 of about 29,975,358 (298)

The relationship between optic atrophy 1 polymorphism and normal tension glaucoma in Taiwan [PDF]

Taiwan Journal of Ophthalmology, 2018
PURPOSE: The purpose of this research is to evaluate the relationship between of optic atrophy 1 (OPA1) polymorphism and normal tension glaucoma (NTG) by surveying patients from central Taiwan. This study finding could help us to understand the impact of
Yan-Ting Chen, San-Ni Chen, Chin-San Liu
doaj   +4 more sources

COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report [PDF]

Frontiers in Neurology
IntroductionCOG5-related congenital disorder of glycosylation (COG5-CDG) is a rare autosomal recessive metabolic disorder with variable neurologic and ophthalmologic involvement.
Katherine Granger, Catherine Do, Catherine Quindipan, Ryan Schmidt, Ryan Schmidt, Mark S. Borchert, Mark S. Borchert, Aaron Nagiel, Aaron Nagiel, Melinda Y. Chang, Melinda Y. Chang   +10 more
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Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review

Brain Sciences, 2023
Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, the classic phenotype is composed of optic atrophy, diabetes mellitus type 1, diabetes insipidus, and deafness.
Ruben Jauregui, Nicolas J. Abreu, Shani Golan, Joseph F. Panarelli, Meenakshi Sigireddi, Gopi K. Nayak, Doria M. Gold, Janet C. Rucker, Steven L. Galetta, Scott N. Grossman   +9 more
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Case report: Corneal endothelial degeneration and optic atrophy in dentatorubral-pallidoluysian atrophy quantified by specular micrography and optical coherence tomography

Frontiers in Neurology, 2022
IntroductionDentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease with various neurological manifestations. Corneal endothelial degeneration and optic atrophy have been reported separately; however, there are no ...
Shunya Takizawa, Hiroto Mitamura, Hiroto Mitamura, Yuko Ohnuki, Kenji Kawai, Yoichi Ohnuki, Eiichiro Nagata, Wakoh Takahashi   +7 more
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Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome

Indian Journal of Ophthalmology, 2022
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, hearing loss, and optic nerve atrophy.
Ayca Kocaaga, Sevgi Yimenicioglu, Haluk Hüseyin Gürsoy   +2 more
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Demographic, Clinical and Laboratory Characteristics of Ocular Syphilis: 6-Years Case Series Study From an Eye Center in East-China

Frontiers in Immunology, 2022
PurposeTo report the demographic, clinical, and laboratory characteristics of ocular syphilis based on a 6-year case series study from an eye center in East-China.MethodsA total of 131 cases (191 eyes) of ocular syphilis and the annual number of total ...
Chuan-bin Sun, Geng-hao Liu, Rong Wu, Zhe Liu   +3 more
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Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction

Frontiers in Neuroscience, 2020
Optic Atrophy 1 (OPA1) is a mitochondrially targeted GTPase that plays a pivotal role in mitochondrial health, with mutations causing severe mitochondrial dysfunction and typically associated with Dominant Optic Atrophy (DOA), a progressive blinding ...
Daniel M. Maloney, Naomi Chadderton, Sophia Millington-Ward, Arpad Palfi, Ciara Shortall, James J. O’Byrne, James J. O’Byrne, Lorraine Cassidy, David Keegan, Peter Humphries, Paul Kenna, Paul Kenna, Gwyneth Jane Farrar   +12 more
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The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment. [PDF]

PLoS Genetics, 2008
Mutations in optic atrophy 1 (OPA1), a nuclear gene encoding a mitochondrial protein, is the most common cause for autosomal dominant optic atrophy (DOA).
Will Yarosh, Jessica Monserrate, James Jiayuan Tong, Stephanie Tse, Phung Khanh Le, Kimberly Nguyen, Carrie B Brachmann, Douglas C Wallace, Taosheng Huang   +8 more
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Kearns-Sayre syndrome with optic nerve atrophy phenotype: A possible biological and clinical concurrence of two mutations?

Journal of Biological Research, 2022
The authors report about the association of progressive external ophthalmoplegia, atypical pigmentary retinopathy, ataxia phenotype with onset in first months of life (Kearns-Sayre syndrome) and with optic nerve atrophy and deafness. The localization of
Agostino Berio, Gian Luigi Mariottini, Marco Frascio, Attilia Piazzi   +3 more
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Homonymous Retinal Ganglion Cell Layer Atrophy With Asymptomatic Optic Tract Glioma in Neurofibromatosis Type I

Frontiers in Neurology, 2020
Approximately 20% of patients with Neurofibromatosis type 1 (NF1) develop optic pathway gliomas (OPGs). Not all OPGs in NF1 necessarily become vision compromising and predicting which patients might develop visual decline is difficult at present time ...
Amirah I. Momen, Ryan T. Muir, Carolina Barnett, Carolina Barnett, Arun N. E. Sundaram, Arun N. E. Sundaram   +5 more
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