Results 41 to 50 of about 62,463 (295)

The clinical profile of childhood optic neuritis [PDF]

Arquivos de Neuro-Psiquiatria, 2001
PURPOSE: To report the clinical features and outcome of a series of children with optic neuritis. METHODS: We reviewed the medical records of patients up to 16 years old with optic neuritis. Group 1 comprised children seen up to two weeks after the onset
Marco Aurélio Lana-Peixoto, Gustavo Cardoso de Andrade   +1 more
doaj   +1 more source

OPA1 analysis in an international series of probands with bilateral optic atrophy [PDF]

Acta Ophthalmologica, 2016
PurposeTo determine the molecular genetic cause in previously unreported probands with optic atrophy from the United Kingdom, Czech Republic and Canada.MethodsOPA1 coding regions and flanking intronic sequences were screened by direct sequencing in 44 probands referred with a diagnosis of bilateral optic atrophy.
Liskova, Petra, Tesarova, Marketa, Dudakova, Lucia, Svecova, Stepanka, Kolarova, Hana, Honzik, Tomas, Seto, Sharon, Votruba, Marcela   +7 more
openaire   +4 more sources

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

, 2023
A clinical and genetic study was conducted with pediatric patients and their relatives with optic atrophy 1 (OPA1) mutations to establish whether there is a genotype–phenotype correlation among the variants detected within and between families ...
Susana Noval, Marta Guerrero-Carretero, Victoria E. F. Montaño, Noval, Susana, Natalia Arruti, Ángela del Pozo, Patricia Rodríguez-Solana, Arruti, Natalia, Fernando Santos-Simarro, Luna Delgado-Mora, Emi Rikeros-Orozco, Vallespín, Elena, Delgado-Mora, Luna, Del Pozo, Ángela, Santos-Simarro, Fernando, Rikeros-Orozco, Emi, Montaño, Victoria E F, Elena Vallespín, Guerrero-Carretero, Marta, Rodríguez-Solana, Patricia, Nieves-Moreno, María, María Nieves-Moreno   +21 more
core   +1 more source

A case of a young patient with progressive vision loss: An atypical presentation of the rare Wolfram Syndrome in a Middle Eastern individual

American Journal of Ophthalmology Case Reports
Purpose: To describe an atypical presentation of a rare disease in a young middle eastern woman with a relatively adult-onset type 1 diabetes mellitus, bilateral optic atrophy and progressive decreased vision diagnosed as the Wolfram disease. Observation:
Meishar Meisel, Eran Berkowitz, Dana Irge, Beatrice Tiosano, Anat Kesler   +4 more
doaj   +1 more source

Establishing induced pluripotent stem cell lines from two dominant optic atrophy patients with distinct OPA1 mutations and clinical pathologies

Frontiers in Genetics, 2023
Dominant optic atrophy (DOA) is an inherited disease that leads to the loss of retinal ganglion cells (RGCs), the projection neurons that relay visual information from the retina to the brain through the optic nerve.
Katherine A. Pohl, Katherine A. Pohl, Xiangmei Zhang, Anh H. Pham, Jane W. Chan, Alfredo A. Sadun, Xian-Jie Yang, Xian-Jie Yang   +7 more
doaj   +1 more source

Optic Atrophy 1 Is Epistatic to the Core MICOS Component MIC60 in Mitochondrial Cristae Shape Control [PDF]

Cell Reports, 2016
The mitochondrial contact site and cristae organizing system (MICOS) and Optic atrophy 1 (OPA1) control cristae shape, thus affecting mitochondrial function and apoptosis. Whether and how they physically and functionally interact is unclear. Here, we provide evidence that OPA1 is epistatic to MICOS in the regulation of cristae shape. Proteomic analysis
GLYTSOU, CHRISTINA, Calvo, Enrique, COGLIATI, SARA, MEHROTRA, ARPIT, ANASTASIA, IRENE, RIGONI, GIOVANNI, Raimondi, Andrea, Shintani, Norihito, Loureiro, Marta, Vazquez, Jesùs, PELLEGRINI, LUCA, Enriquez, Jose Antonio, SCORRANO, LUCA, SORIANO GARCIA - CUERVA, MARIA EUGENIA   +13 more
openaire   +3 more sources

Generation and characterization of the hiPSC line CSSi023-A (16154) from a patient with ADOA caused by an OPA1 variant

Stem Cell Research
Autosomal Dominant Optic Atrophy plus syndrome (ADOA, OMIM #125250) is a mitochondrial optic neuropathy characterized by progressive degeneration of retinal ganglion cells (RGCs), leading to worsening visual impairment.
Angela Maria Giada Giovenale, Ilaria Ferrone, Silvia Tomaselli, Elisa Maria Turco, Martina Mazzoni, Barbara Torres, Paola Zanfardino, Edvige Vulcano, Daniela Ferrari, Devid Damiani, Filippo M. Santorelli, Alessandro De Luca, Maria Pennuto, Angelo Luigi Vescovi, Vittoria Petruzzella, Jessica Diana Rosati   +15 more
doaj   +1 more source

A clinical study of optic atrophy

, 2022
Methods and materials:50 patients of optic atrophy attended to ophthalmology outpatient department from November 2019 to May 2021 were enquired about history of present illness, ingestion of toxic substances, Tobacco, alcohol, and examined for visual ...
Kola Vijaya Sekhar, M. Nirmala, G. S. Ramesh Kumar, P.D.S.Keerthi   +3 more
core   +1 more source

Nationwide usage of ethambutol and incidence and screening practices of optic neuropathy

Frontiers in Pharmacology
IntroductionEthambutol, a key anti-tuberculosis medication, is associated with optic neuropathy, which can lead to significant vision impairment. This population-based cohort study investigated the nationwide usage of ethambutol and the incidence and ...
Jiyeong Kim, Hyeon Yoon Kwon, Seong Joon Ahn   +2 more
doaj   +1 more source

Retinal Vessel Density in Optical Coherence Tomography Angiography in Optic Atrophy after Nonarteritic Anterior Ischemic Optic Neuropathy

Journal of Ophthalmology, 2017
Aims. To compare optical coherence tomography angiography (OCT-A) retinal vasculature measurements between normal and optic atrophy after nonarteritic anterior ischemic optic neuropathy (NAION) subjects. Design.
Chun-Hsiu Liu, Ling-Yuh Kao, Ming-Hui Sun, Wei-Chi Wu, Henry Shen-Lih Chen   +4 more
doaj   +1 more source