Results 41 to 50 of about 2,133 (164)

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

Frontiers in Genetics, 2015
Dominant optic neuropathies causing fiber loss in the optic nerve are among the most frequent inherited mitochondrial diseases. In most genetically resolved cases, the disease is associated to a mutation in OPA1, which encodes an inner mitochondrial ...
Majida eCharif, Majida eCharif, Agathe eRoubertie, Sara eSalime, Sonia eMamouni, Cyril eGoizet, Christian Paul Hamel, Christian Paul Hamel, Guy eLenaers, Guy eLenaers   +9 more
doaj   +1 more source

Validation of a New Digital and Automated Color Perception Test

Diagnostics
Although color vision deficiencies are very prevalent, there are no ideal methods for assessing color vision in all environments. We compared a new digital and automated method that quantifies color perception for the three protan, deutan, and tritan ...
Alvaro Fanlo-Zarazaga, José Ignacio Echevarría, Juan Pinilla, Adrián Alejandre, Teresa Pérez-Roche, Diego Gutiérrez, Marta Ortín, Victoria Pueyo   +7 more
doaj   +1 more source

Autism Spectrum Disorder and Atypical Epilepsy Presentation in KCNQ3 Mutations: Expansion of Phenotypic Spectrum With Neuroimaging Findings

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Background Mutations in the KCNQ3 gene are primarily associated with benign familial neonatal epilepsy; however, recent studies have expanded its phenotypic spectrum to include developmental and epileptic encephalopathies (DEE) and neurodevelopmental disorders, including autism spectrum disorder (ASD).
Danilo de Assis Pereira, Rafael Saliba Helmer, Matheus Luis de Souza Silva, Lisiane Seguti Ferreira, Vjekoslav Krzelj   +4 more
wiley   +1 more source

Genotype–Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants—New Cases and Systematic Review

Human Mutation, Volume 2026, Issue 1, 2026.
Biallelic pathogenic FDXR variations were identified in 2017 as being responsible for sensorial neuropathies. The first reported patients suffered from auditory and optic sensorineural impairments (ANOA, MIM #617717). Since then, many publications have described various phenotypes including peripheral and central nervous systems impairments (MMDS9B ...
Antoine Paul, Ghizlene Lahlou, Sophie Achard, Jérôme Nevoux, Isabelle Mosnier, Isabelle Rouillon, Yann Nguyen, Maya Benali, Jean-François Papon, Agnes Rotig, Margaux Serey-Gaut, Celine Labeyrie, Guillemette Beaudonnet, Laurence Jonard, Ralyath Balogoun, Sandrine Marlin, Miklos Sahin -Toth   +16 more
wiley   +1 more source

Optic neuritis in pediatric population: A review in current tendencies of diagnosis and management

Journal of Optometry, 2014
Optic neuritis is an inflammation of the optic nerve and may be related to different systemic conditions. The clinical presentation of this pathology usually includes sudden loss of visual acuity (VA) which may be unilateral or bilateral, visual field ...
Rafael José Pérez-Cambrodí, Aránzazu Gómez-Hurtado Cubillana, María L. Merino-Suárez, David P. Piñero-Llorens, Carlos Laria-Ochaita   +4 more
doaj   +1 more source

Color Vision Outcome after Phacoemulsification with Intraocular Lens Implant in Patients with Diabetes Mellitus

Journal of Aziz Fatimah Medical and Dental College, 2022
Objective: To determine the impaired color function in pseudophakic background diabetic retinopathy patient Methodology: After the ethical approval from The University of Faisalabad under ethical approval number TUF/Dean//2019/39 the cross-sectional ...
Nimra Gul, Iqra Iqbal , Amna Farooq
doaj   +1 more source

Antisense oligonucleotides targeting valosin‐containing protein ameliorate muscle pathology and molecular defects in cell and mouse models of multisystem proteinopathy

Clinical and Translational Medicine, Volume 15, Issue 12, December 2025.
Multisystem proteinopathy 1 (MSP1), caused by gain‐of‐function VCP variants, leads to multisystem degeneration. Using VCP patient‐derived hiPSCs, skeletal muscle progenitor cells were generated to evaluate antisense oligonucleotide (ASO) therapy.
Pallabi Pal, Michele Carrer, Lan Weiss, Olga G. Jaime, Cheng Cheng, Alyaa Shmara, Victoria Boock, Danae Bosch, Marwan Youssef, Yasamin Fazeli, Megan Afetian, Tamar R. Grossman, Michael R. Hicks, Paymaan Jafar‐nejad, Virginia Kimonis   +14 more
wiley   +1 more source

Non-arteritic ischemic optic neuropathy and supplemental nitric oxide usage

American Journal of Ophthalmology Case Reports, 2018
Purpose: To report a case of Non-Arteritic Ischemic Optic Neuropathy (NAION) in a middle-aged bodybuilder in excellent physiological condition without any signs or symptoms of vasculopathy and a history of nitric oxide supplement usage. Observations: The
Jimmy Yan Hu, Barrett Katz
doaj   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Acquired dyschromatopsia among workers exposed to Acetone and Isopropyl Alcohol (IPA) [PDF]

, 2011
Objectives: The purpose of this study was to examine the correlation between exposure to acetone and isopropyl alcohol (IPA) and the acquisition dyschromatopsia.
노재훈, 김찬윤
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