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Optic Atrophy

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ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy.

Leonardo Caporali, Stefania Magri, Andrea Legati, Valentina Del Dotto, Francesca Tagliavini, Francesca Balistreri, Alessia Nasca, Chiara La Morgia, Michele Carbonelli, Maria Lucia Valentino, Eleonora Lamantea, Silvia Baratta, Ludger Schöls, Rebecca Schüle, Piero Barboni, Maria Lucia Cascavilla, Alessandra Maresca, Mariantonietta Capristo, Anna Ardissone, Davide Pareyson, Gabriella Cammarata, Lisa Melzi, Massimo Zeviani, Lorenzo Peverelli, Costanza Lamperti, Stefania Bianchi Marzoli, Mingyan Fang, Matthis Synofzik, Daniele Ghezzi, Valerio Carelli, Franco Taroni,

OBJECTIVE:Dominant optic atrophy (DOA) is the most common inherited optic neuropathy with a prevalence of 1:12,000 to 1:25,000. OPA1 mutations are found in 70% of DOA patients, with a significant number remaining undiagnosed. METHODS:We screened 286 index cases presenting optic atrophy, negative for OPA1 mutations, by targeted NGS or whole-exome ... Read more >>

Ann. Neurol. (Annals of neurology)
[2020, :]

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The Slowly Progressive, Bilaterally Simultaneous Variety of Leber Hereditary Optic Neuropathy.

Armin Handzic, Misha L Pless,

Klin Monbl Augenheilkd (Klinische Monatsblatter fur Augenheilkunde)
[2020, :]

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Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome.

K Batjargal, T Tajima, E F Jimbo, T Yamagata,

PURPOSE:Wolfram syndrome (WS) is a rare disorder caused by mutations in WFS1 that is characterized by diabetes mellitus, optic atrophy, sensorineural deafness, diabetes insipidus, and neurodegeneration. This disease is usually inherited as an autosomal recessive trait, but an autosomal dominant form has been reported. WFS1 encodes a transmembrane protein, which ... Read more >>

J. Endocrinol. Invest. (Journal of endocrinological investigation)
[2020, :]

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Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.

Chiara La Morgia, Alessandra Maresca, Giulia Amore, Laura Ludovica Gramegna, Michele Carbonelli, Emanuela Scimonelli, Alberto Danese, Simone Patergnani, Leonardo Caporali, Francesca Tagliavini, Valentina Del Dotto, Mariantonietta Capristo, Federico Sadun, Piero Barboni, Giacomo Savini, Stefania Evangelisti, Claudio Bianchini, Maria Lucia Valentino, Rocco Liguori, Caterina Tonon, Carlotta Giorgi, Paolo Pinton, Raffaele Lodi, Valerio Carelli,

Wolfram syndrome (WS) is a recessive multisystem disorder defined by the association of diabetes mellitus and optic atrophy, reminiscent of mitochondrial diseases. The role played by mitochondria remains elusive, with contradictory results on the occurrence of mitochondrial dysfunction. We evaluated 13 recessive WS patients by deep clinical phenotyping, including optical ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):4785]

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Therapeutic Effects of Idebenone on Leber Hereditary Optic Neuropathy.

Xiujuan Zhao, Yuxin Zhang, Lin Lu, Hui Yang,

Purpose: To characterize the potential therapeutic effects of idebenone on Leber hereditary optic neuropathy (LHON) in terms of visual acuity (VA), visual field (VF) defects, visual evoked potential (VEP) and retinal nerve fibre layer (RNFL) thickness using optical coherence tomography (OCT) measurements.Methods: This was a retrospective case-controlled study of the ... Read more >>

Curr. Eye Res. (Current eye research)
[2020, :1-9]

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Harnessing the protective role of OPA1 in diabetic cardiomyopathy.

David Patten, Mary-Ellen Harper, Neoma Boardman,

Acta Physiol (Oxf) (Acta physiologica (Oxford, England))
[2020, :e13466]

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Protective effects of pharmacological therapies in animal models of multiple sclerosis: a review of studies 2014-2019.

Bridget Martinez, Philip V Peplow,

Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system. The disability caused by inflammatory demyelination clinically dominates the early stages of relapsing-remitting MS and is reversible. Once there is considerable loss of axons, MS patients enter a secondary progressive stage. Disease-modifying drugs currently in use for ... Read more >>

Neural Regen Res (Neural regeneration research)
[2020, 15(7):1220-1234]

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Parapapillary atrophy and changes in the optic nerve head and posterior pole in high myopia.

Mi Sun Sung, Hwan Heo, Helong Piao, Yue Guo, Sang Woo Park,

We investigated the relationship between microstructure of β-parapapillary atrophy (β-PPA) and morphologic features of optic nerve head (ONH) and posterior pole in highly myopic eyes. Eighty-nine highly myopic eyes were included in this study. Bruch's membrane opening (BMO) area, lamina cribrosa (LC) thickness, anterior laminar depth, peripapillary and subfoveal choroidal ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):4607]

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Clinical and Optic Disc Characteristics of Patients Showing Visual Recovery in Leber Hereditary Optic Neuropathy.

Yeji Moon, Ungsoo S Kim, Jinu Han, Hyosook Ahn, Hyun Taek Lim,

BACKGROUND:The visual prognosis in Leber hereditary optic neuropathy (LHON) is generally poor. However, some individuals can have spontaneous visual recovery (VR) in one or both eyes by a mechanism that is not yet clearly understood. The purpose of this study was to determine whether certain clinical and optic disc features ... Read more >>

J Neuroophthalmol (Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society)
[2020, 40(1):15-21]

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Author Correction: Propagation and Selectivity of Axonal Loss in Leber Hereditary Optic Neuropathy.

Razek Georges Coussa, Pooya Merat, Leonard A Levin,

An amendment to this paper has been published and can be accessed via a link at the top of the paper. ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):4646]

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Clinical Features of Chinese Sporadic Leber Hereditary Optic Neuropathy Caused by Rare Primary mtDNA Mutations.

Shilei Cui, Ling Yang, Hanqiu Jiang, Jingting Peng, Jun Shang, Jiawei Wang, Xiaojun Zhang,

OBJECTIVE:The primary aim of this study was to describe clinical features of Chinese sporadic Leber hereditary optic neuropathy (LHON) caused by rare primary mitochondrial DNA (mtDNA) mutations. METHODS:We characterized a Chinese patient cohort with rare primary mtDNA mutations at Beijing Tongren Hospital between 2015 and 2018. The clinical features of ... Read more >>

J Neuroophthalmol (Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society)
[2020, 40(1):30-36]

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Neuroimaging of septo-optic dysplasia-plus with midbrain hypoplasia and ophthalmoplegia.

Colin Y Wang, Daniel T Ginat,

Septo-optic dysplasia is a rare brain malformation that can be associated with anomalous cortical development, such as schizencephaly, which is referred to as septo-optic dysplasia plus. This report describes septo-optic dysplasia-plus associated with unilateral atrophy of the midbrain and oculomotor nerve deficiency, which was diagnosed on MRI in a teenage ... Read more >>

eNeurologicalSci (eNeurologicalSci)
[2020, 19:100235]

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Multilocus Mitochondrial Mutations Do Not Directly Affect the Efficacy of Gene Therapy for Leber Hereditary Optic Neuropathy.

Shuo Yang, Chen Chen, Jia-Jia Yuan, Shuai-Shuai Wang, Xing Wan, Heng He, Si-Qi Ma, Bin Li,

PURPOSE:Clinical trials of gene therapy for Leber hereditary optic neuropathy (LHON) were conducted in 9 volunteers with the mitochondrial mutation, G11778A in ND4. The purpose of this study was to investigate whether multilocus mitochondrial mutations directly influence the efficacy of gene therapy for LHON. METHODS:Nine volunteers with LHON participated in ... Read more >>

J Neuroophthalmol (Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society)
[2020, 40(1):22-29]

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Association of macular thickness with parapapillary atrophy in myopic eyes.

Helong Piao, Yue Guo, Jun Young Ha, Mi Sun Sung, Sang Woo Park,

BACKGROUND:To investigate whether macular structure could be affected by axial elongation and to determine the association between macular intraretinal thickness and the microstructure of β-zone parapapillary atrophy (PPA) in myopic eyes. METHODS:The study recruited 113 healthy myopic subjects (113 eyes). Images of the macula, subfoveal choroid, and optic nerve head ... Read more >>

BMC Ophthalmol (BMC ophthalmology)
[2020, 20(1):93]

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Giant Pituitary Adenoma Presenting with Foster-Kennedy Syndrome in a 21-Year Old Ethiopian Patient: A Rarely Reported Phenomenon: A Case Report.

Biniyam Ayele, Abenet Mengesha, Abdi Wotiye, Yodit Alemayehu,

Background:Disorders of the pituitary gland and the sellar region present a wide spectrum of clinical problems. A variety of lesions in this area tend to present with similar problems; namely, headache, hormonal disorders, and loss of vision. Benign adenomas of the pituitary gland are by far the most common disorders ... Read more >>

Ethiop J Health Sci (Ethiopian journal of health sciences)
[2020, 30(2):311-314]

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Correction to: Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.

Maryam Sobhani, Mohammad Amin Tabatabaiefar, Soudeh Ghafouri-Fard, Asadollah Rajab, Asal Hojjat, Abdol-Mohammad Kajbafzadeh, Mohammad Reza Noori-Daloii,

Following publication of the original article [1], the authors flagged that the name of 'Asal Hojjat' was misspelled; the name had been spelled as 'Asal Hojat'. ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21(1):58]

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CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity.

Silvana Guerriero, Francesco D'Oria, Giacomo Rossetti, Rosa Anna Favale, Stefano Zoccolella, Giovanni Alessio, Vittoria Petruzzella,

Charcot-Marie-Tooth (CMT) constitutes a group of heterogeneous hereditary motor and sensor neuropathies. Mutations in mitofusin-2 (MFN2) cause CMT type 2A by altering mitochondrial fusion and trafficking along with the axonal microtubule system. In literature patients presenting with CMT2A are reported as having a subacute onset of optic atrophy associated with ... Read more >>

Int Med Case Rep J (International medical case reports journal)
[2020, 13:41-45]

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Taste and smell function in Wolfram syndrome.

Raul Alfaro, Tasha Doty, Anagha Narayanan, Heather Lugar, Tamara Hershey, M Yanina Pepino,

BACKGROUND:Wolfram syndrome is a rare genetic disease characterized by insulin-dependent diabetes, optic nerve atrophy, sensorineural hearing loss and neurodegeneration. Although olfactory dysfunction, a classical clinical marker of neurodegenerative processes, has been reported in Wolfram syndrome, its use as a clinical marker in Wolfram is limited due to data scarcity. In ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):57]

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Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.

Chun-An Chen, Wei Wang, Steen E Pedersen, Ayush Raman, Michelle L Seymour, Fernanda R Ruiz, Anping Xia, Meike E van der Heijden, Li Wang, Jiani Yin, Joanna Lopez, Megan E Rech, Richard A Lewis, Samuel M Wu, Zhandong Liu, Fred A Pereira, Robia G Pautler, Huda Y Zoghbi, Christian P Schaaf,

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been identified as an autosomal-dominant disorder characterized by a complex neurological phenotype, with high prevalence of intellectual disability and optic nerve atrophy/hypoplasia. The syndrome is caused by loss-of-function mutations in NR2F1, which encodes a highly conserved nuclear receptor that serves as a transcriptional regulator. ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2020, 29(5):705-715]

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[Clinical practice guidelines for single gene glaucoma disorder].

Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Zhenglin Yang, Jiyun Yang, Bo Gong, Qingjiong Zhang,

Glaucoma is a group of progressive optic neuropathies featuring retinal ganglion cell and axonal degeneration, which typically manifest as sunken atrophy of optic papilla and characteristic visual field defect. Genetic factors play an important role in the pathogenesis of glaucoma. This guideline mainly focuses on single gene mutation-related glaucoma by ... Read more >>

Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics)
[2020, 37(3):329-333]

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Automatic Optic Nerve Measurement: A New Tool to Standardize Optic Nerve Assessment in Ultrasound B-Mode Images.

Kristen M Meiburger, Andrea Naldi, Nicola Michielli, Lorenzo Coppo, Klaus Fassbender, Filippo Molinari, Piergiorgio Lochner,

Transorbital sonography provides reliable information about the estimation of intra-cranial pressure by measuring the optic nerve sheath diameter (ONSD), whereas the optic nerve (ON) diameter (OND) may reveal ON atrophy in patients with multiple sclerosis. Here, an AUTomatic Optic Nerve MeAsurement (AUTONoMA) system for OND and ONSD assessment in ultrasound ... Read more >>

Ultrasound Med Biol (Ultrasound in medicine & biology)
[2020, :]

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Neuromyelitis optica: a pilot study of clinical presentation and status of serological biomarker AQP4 among patients admitted to a tertiary centre in NCNS, Sudan.

Etedal Ahmed AbuElbasher Ibrahim, Fatima Gammer, Alsadig Gassoum,

BACKGROUND:Neuromyelitis optica (NMO) is a demyelinating disease primarily affecting the optic nerves and spinal cord. It is distinguished from other demyelinating conditions by the presence of AQP4-IgG and serum aquaporin 4 (AQP4), found mainly in the blood-brain barrier. This descriptive study was conducted from January 2015 to June 2018 at ... Read more >>

BMC Neurosci (BMC neuroscience)
[2020, 21(1):9]

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Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.

Ye Elaine Wang, Dhariana Acon Ramirez, Ta Chen Chang, Audina Berrocal,

BACKGROUND:Peters plus syndrome (PPS) is a combination of congenital Peters anomaly and systemic abnormalities. It is inherited most commonly in an autosomal recessive pattern with homozygous B3GLCT mutations. Ocular findings consist predominantly anterior segment abnormalities without posterior segment involvement. CASE PRESENTATION:In this presentation, we report a case of PPS with ... Read more >>

BMC Ophthalmol (BMC Ophthalmology)
[2020, 20(1):118]

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Association of macular thickness with parapapillary atrophy in myopic eyes

Sang Park, Helong Piao, Yue Guo, Jun Ha, Mi Sung,

<title>Abstract</title> <p> Background: To investigate whether macular structure could be affected by axial elongation and to determine the association between macular intraretinal thickness and the microstructure of β-zone parapapillary atrophy (PPA) in myopic eyes. Methods: The study recruited 113 healthy myopic subjects (113 eyes). Images of the macula, ... Read more >>

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Deep-layer Microvasculature Dropout in Pre-perimetric Glaucoma Patients.

Min Hee Suh, Jeoung Ho Na, Linda M Zangwill, Robert N Weinreb,

PURPOSE:To compare disease severity between pre-perimetric primary open-angle glaucoma (POAG) patients with and without deep-layer microvasculature dropout. METHODS:Ninety-four eyes of 94 pre-perimetric POAG patients with β-zone parapapillary atrophy (βPPA) were categorized according to the presence of deep-layer microvasculature dropout defined as a complete loss of microvasculature within the choroid or ... Read more >>

J. Glaucoma (Journal of glaucoma)
[2020, :]

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