Results 61 to 70 of about 7,016 (169)

Anesthetic effects on electrophysiological responses across the visual pathway

Scientific Reports
Anesthetics are widely used in electrophysiological tests to assess retinal and visual system functions to avoid experimental errors caused by movement and stress in experimental animals.
Shiyao Zhang, Weihui Xu, Shanshan Liu, Fang Xu, Xiaopeng Chen, Huan Qin, Kai Yao   +6 more
doaj   +1 more source

CLRN1 Variants in Müller Cells Cause Mitochondrial Dysfunction in USH3A Retinal Organoids

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
We generated retinal organoids from a patient with USH3A and performed single‐cell RNA sequencing. CLRN1 was specifically expressed in Müller cells, where its variants led to mitochondrial dysfunction and photoreceptor degeneration. ABSTRACT Background Usher syndrome 3A (USH3A), caused by mutations in the CLRN1 gene, leads to retinitis pigmentosa and ...
Rui Zhang, Xinbo Ji, Han Yu, Jingwen Xu, Yu Wang, Ping Sun, Yingxin Wang, Yao Tang, Zexin Zhan, Yichang Jiao, Didi Shan, Pengfei Lin, Dong‐dong Wang, Yuying Zhao, Xianyang Liu, Chuanzhu Yan, Jianqiao Li, Mingfeng Li, Fuchen Liu, Shengping Hou   +19 more
wiley   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, Volume 104, Issue 5, Page e555-e564, August 2026.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

ApoE‐ and Cfh‐deficient mice exhibit structural and molecular features of human early–intermediate retinal degeneration

Animal Models and Experimental Medicine, Volume 9, Issue 7, Page 1420-1435, July 2026.
Age‐related macular degeneration (AMD) involves lipid dysregulation and complement overactivation. Here, we characterize a double‐knockout ApoE−/−/Cfh−/− mouse as a model of early–intermediate retinal degeneration. These mice exhibit retinal pigment epithelium thinning, Bruch's membrane thickening, lipid accumulation, enhanced C5b‐9 deposition ...
Sergio Recalde, Maite Moreno Orduña, Jaione Bezunartea, Idoia Belza, Ainara Chas, Laura Fernández‐Sánchez, Nicolás Cuenca Navarro, Alfredo García‐Layana, Patricia Fernández‐Robredo, María Hernández   +9 more
wiley   +1 more source

Association between Asymptomatic Unilateral Internal Carotid Artery Stenosis and Electrophysiological Function of the Retina and Optic Nerve

Journal of Ophthalmology, 2017
Purpose. This study was designed to assess retinal and optic nerve bioelectrical function in patients with unilateral asymptomatic but hemodynamically significant internal carotid artery stenosis (ICAS). Methods.
Anna Machalińska, Aleksandra Kowalska-Budek, Miłosz Piotr Kawa, Arkadiusz Kazimierczak, Krzysztof Safranow, Marta Kirkiewicz, Grażyna Wilk, Wojciech Lubiński, Piotr Gutowski, Bogusław Machaliński   +9 more
doaj   +1 more source

An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition

Epilepsia, Volume 67, Issue 7, Page 3644-3656, July 2026.
Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha, Christina Tsetsos, Mark Bedford, Gregory Costain, Sunita Vohra, Juan Pablo Diaz Martinez, Elise Heon, Jacob Vorstman, Carolina Gorodetsky, Ajoy Vincent, Jesiqua Rapley, Lori Anderson, Evdokia Anagnostou, Danielle A. Baribeau   +13 more
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Spatial Selectivity of Pattern Electroretinogram Components

Ophthalmic Research, 2009
Pattern electroretinograms were recorded to checkerboard stimuli of various check size to both onset-offset pattern and pattern reversal under most similar conditions of contrast and luminance. With onset-offset pattern the amplitude of the p-q and q-r components of the onset response showed a peak for checks of about 20 min of arc (spatial tuning ...
M, Yoshii, E, Dodt
openaire   +2 more sources

Steady-State Pattern Electroretinography in Eyes with Glaucoma and High Myopia

Clinical Ophthalmology, 2021
Xian Hui Lim,1 Monisha Esther Nongpiur,1– 3 Raymond P Najjar,2,3 Quan V Hoang,1– 4 Dan Milea,1– 3 Chee Wai Wong,1– 3 Rahat Husain,1,3 Hla Myint Htoon,2,3 Tin Aung,1– 3,5 Shamira Perera,1– 3 Tina Tzee Ling Wong1– 3,5 1Singapore National Eye Centre ...
Lim XH, Nongpiur ME, Najjar RP, Hoang QV, Milea D, Wong CW, Husain R, Htoon HM, Aung T, Perera S, Wong TTL   +10 more
doaj  

Comparison of Pattern Electroretinography and Optical Coherence Tomography Parameters in Patients with Primary Open-Angle Glaucoma and Ocular Hypertension

Türk Oftalmoloji Dergisi, 2015
Objectives: To investigate the correlation of visual field (VF), pattern electroretinography (PERG) and Fourier domain optical coherence tomography (FD-OCT) results in patients with ocular hypertension (OHT) and early primary open-angle glaucoma (POAG).
Semra Tiryaki Demir, Mehmet Ersin Oba, Ezgi Tuna Erdoğan, Mahmut Odabaşı, Ayşe Burcu Dirim, Mehmet Demir, Efe Can, Orhan Kara, Selam Yekta Şendül   +8 more
doaj   +1 more source