Review
Clinical Neurology
Danilo Tornabene, Paola Bini, Matteo Gastaldi, Elisa Vegezzi, Carlo Asteggiano, Enrico Marchioni, Luca Diamanti
Summary: This study aims to investigate the presentation, complications, management, and outcomes of copper deficiency-induced neurological pathologies due to Wilson disease overtreatment. A literature review identified 10 additional cases of neurological pathology resulting from copper deficiency in the context of Wilson disease over-treatment, with myelopathy and peripheral neuropathy being the most common complications.
NEUROLOGICAL SCIENCES
(2023)
Article
Ophthalmology
Nicholas Levergood, Ji Kwan Park, Benjamin Campbell, Hui Bae Harold Lee
Summary: Optic nerve sheath fenestration is a commonly used surgical technique for treating papilledema, but can pose a risk of unilateral blindness; bilateral vision loss in this case may be related to late-stage metastatic malignant disease involving the optic chiasm and optic nerve sheath.
OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY
(2022)
Review
Biochemistry & Molecular Biology
Reece Mitchell, Joseph Chacko
Summary: Amiodarone-associated optic neuropathy (AAON) is a complex clinical diagnosis that needs to be distinguished from non-arteritic ischemic optic neuropathy (NAION). The diagnosis of AAON is challenging due to its varied clinical presentation and incomplete understanding of its pathophysiologic mechanisms. This article reviews the literature on AAON and NAION, and discusses the protective mechanisms of insulin-like growth factor 1 (IGF-1) and PI3K/Akt against amiodarone-induced damage to retinal ganglion and pigment epithelial cells.
Article
Radiology, Nuclear Medicine & Medical Imaging
Ping Liu, Ban Luo, Lang Chen, Qiu-Xia Wang, Lin-Han Zhai, Hong-Yu Wu, Ya-Li Zhao, Gang Yuan, Gui-Hua Jiang, Jing Zhang
Summary: DTI can be a useful tool for detecting microstructural changes in the entire visual pathway in dysthyroid optic neuropathy (DON). The changes in retinal nerve fiber layer thickness and DTI parameters suggest trans-synaptic damage as a potential pathogenic mechanism of DON.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2023)
Article
Medicine, General & Internal
Katarzyna Nowomiejska, Patrycja Lesiuk, Agnieszka Brzozowska, Katarzyna Tonska, Robert Rejdak
Summary: The vasculature and thickness of the macula were assessed using OCT-A in patients with LHON or NA-AION. The superficial vessel density and retinal thickness were more affected in LHON eyes, especially in the nasal and temporal sectors.
Article
Medicine, Research & Experimental
Hana Chylova, Zora Dubska, Martin Kyncl, Martin Fus, Jan Lestak
Summary: The article presents a case of acute pancreatitis in a 24-year-old patient with simultaneous visual acuity loss and changes in the visual field. Traditional eye examinations showed no abnormalities, but abnormalities in amplitudes were observed in visual evoked potentials (VEP). Follow-up examinations revealed progression of visual field changes and prolonged latency in VEP. Magnetic resonance brain imaging confirmed lesions in the visual pathway. This study highlights the importance of using VEP and MRI in diagnosing visual function decreases associated with pancreatitis.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2023)
Article
Ophthalmology
Song-A Che, Yong Woo Lee, Yung-Ju Yoo
Summary: Posterior ethmoidal mucoceles can lead to severe ocular complications. This case report presents a case of compressive optic neuropathy caused by a posterior ethmoidal mucocele. Emergency surgery relieved optic nerve compression but did not improve visual acuity and visual field defect.
Article
Pharmacology & Pharmacy
C. Orssaud, R. Guillemain, A. Lillo Le Louet
Summary: Voriconazole is an antifungal treatment with central neurotoxicity, which can lead to toxic optic neuropathy. Co-administration with ethambutol may increase voriconazole concentration and potentiate the risk of adverse events, such as toxic optic neuropathy. Stricter monitoring and screening of patients treated with this combination of neurotoxic drugs is necessary to detect adverse events early.
EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
(2021)
Letter
Clinical Neurology
Timothee Carette, Nicolas Mulquin, Vincent van Pesch, Frederic London
Summary: This report presents a rare case of PNS with simultaneous bilateral ON and myelitis related to small cell lung cancer, with a cluster of three neural autoantibodies implicated in the disease process. The patient's clinical manifestations highlight the non-classical nature of ON and myelitis in the context of PNS.
MULTIPLE SCLEROSIS AND RELATED DISORDERS
(2021)
Review
Immunology
Ayman G. Elnahry, Mutaz Y. Al-Nawaflh, Aisha A. Gamal Eldin, Omar Solyman, Ahmed B. Sallam, Paul H. Phillips, Abdelrahman M. Elhusseiny
Summary: This systematic review examines cases of optic neuropathy following COVID-19 vaccination, finding that the majority of cases are anterior ischemic optic neuropathy (AION) and optic neuritis (ON). Age and visual improvement are associated with different forms of optic neuropathy.
Article
Ophthalmology
Catherine J. Hwang, Erin E. Nichols, Brian H. Chon, Julian D. Perry
Summary: Thyroid eye disease is an autoimmune condition that can lead to compressive optic neuropathy. Traditional treatments have limitations, but teprotumumab has shown success in reversing the condition.
EUROPEAN JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Clinical Neurology
Jin-Ju Kang, Eun-Su Lee, Haeng-Jin Lee, Seungbae Hwang, Myung-Ja Chung, Sun-Young Oh
Summary: The present case describes an 80-year-old female patient with a history of diabetes and hypertension who presented with sudden bilateral visual loss. Imaging and monitor results indicated acute embolic stroke and atrial fibrillation. The patient was diagnosed with non-arteritic posterior ischemic optic neuropathy (PION), suggesting a possible relationship between PION, uncontrolled atrial fibrillation, and embolic cerebral infarction.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Silvia Cipriani, Marta Guerrero-Valero, Stefano Tozza, Edward Zhao, Veith Vollmer, Danique Beijer, Matt Danzi, Cristina Rivellini, Dejan Lazarevic, Giovanni Battista Pipitone, Bianca Rose Grosz, Costanza Lamperti, Stefania Bianchi Marzoli, Paola Carrera, Marcella Devoto, Chiara Pisciotta, Davide Pareyson, Marina Kennerson, Stefano C. Previtali, Stephan Zuchner, Steven S. Scherer, Fiore Manganelli, Martin Bahler, Alessandra Bolino
Summary: The study identified that novel or very rare variants in the MYO9B gene are associated with CMT2 and isolated OA. Functional studies showed that variants in MYO9B impair protein expression level and motor activity, indicating its essential role in peripheral and central nervous system axons.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Medicine, Research & Experimental
Min Wang, Senmiao Zhu, Bingyan Shen, Yenan Fang, Qiqi Xie, Qin Dai, Ziwen Chen, Xinyu Li, Wencan Wu
Summary: This study aims to investigate the feasibility of endoscopic transnasal optic canal decompression (ETOCD) guided by a navigation surgical system (NSS) for vision recovery in patients with compressive optic neuropathy (CON) caused by craniofacial fibrous dysplasia (CFD) and explore the underlying cause of visual impairment. The results showed that NSS-guided ETOCD was safe and effective for visual recovery in patients with CON due to CFD, and early surgical intervention was critical for long-term recovery.
Article
Genetics & Heredity
Ana Victoria Marco-Hernandez, Miguel Tomas-Vila, Alejandro Montoya-Filardi, Honorio Barranco-Gonzalez, Juan Jesus Vilchez Padilla, Inmaculada Azorin, Patricia Smeyers Dura, Sandra Monfort-Membrado, Inmaculada Pitarch-Castellano, Francisco Martinez-Castellano
Summary: The IMMT gene codes for mitofilin, a protein that regulates mitochondrial cristae morphology, and mutations in this gene may lead to alterations in mitochondrial structure and function. Two patients from a family with developmental encephalopathy and optic neuropathy were found to have a likely pathogenic homozygous variant in the IMMT gene, which is associated with abnormal mitochondrial cristae observed by electron microscopy.
