9,803 results match your criteria Optic Atrophy


SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.

J Hum Genet 2019 Apr 24. Epub 2019 Apr 24.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

Individuals affected with autosomal recessive cutis laxa type 2B and 3 usually show translucent skin with visible veins and abnormal elastic fibers, intrauterine and/or postnatal growth restriction and a typical triangular facial gestalt. Here we describe three unrelated individuals in whom such a cutis laxa syndrome was suspected, especially after electron microscopy revealed immature and less dense dermal elastic fibers in one of them. However, one of these children also displayed optic atrophy and two hypogammaglobulinemia. Read More

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http://www.nature.com/articles/s10038-019-0602-8
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http://dx.doi.org/10.1038/s10038-019-0602-8DOI Listing
April 2019
1 Read

Clinicopathologic Correlation of Aneurysmal Type 1 Neovascularization in Age-Related Macular Degeneration.

Ophthalmol Retina 2019 Feb 5;3(2):99-111. Epub 2018 Sep 5.

Vitreous Retina Macula Consultants of New York, New York, New York; LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear and Throat Hospital, New York, New York; Department of Ophthalmology, New York University School of Medicine, New York, New York. Electronic address:

Purpose: To correlate multimodal retinal imaging with high-resolution epoxy resin histologic analysis aligned to in vivo tomograms in a patient with exudative aneurysmal type 1 (AT1) neovascularization and hemorrhage secondary to age-related macular degeneration (AMD).

Design: Case study and clinicopathologic correlation.

Participant: An 84-year-old man of European descent with AT1 neovascularization secondary to AMD with a 6-year follow-up with combined antiangiogenic and photodynamic therapy. Read More

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http://dx.doi.org/10.1016/j.oret.2018.08.008DOI Listing
February 2019

Traumatic optic neuropathy-a contralateral finding: A case report.

Exp Ther Med 2019 May 27;17(5):4244-4248. Epub 2019 Mar 27.

Department of Neurosurgery, 3rd Faculty of Medicine, Charles University in Prague, Teaching Hospital Královské Vinohrady, 10034 Prague, Czech Republic.

The present study demonstrates alterations of the contralateral side optic tract to an optic nerve traumatic lesion. Visual acuity of the right eye following Traumatic optic neuropathy (TON) remained at 0 following the injury. Electrophysiological examination using pattern electroretinogram revealed values reduced by 50% in the right eye compared with the left eye. Read More

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http://www.spandidos-publications.com/10.3892/etm.2019.7445
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http://dx.doi.org/10.3892/etm.2019.7445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6468911PMC
May 2019
1 Read

Proteasome dysfunction induces excessive proteome instability and loss of mitostasis that can be mitigated by enhancing mitochondrial fusion or autophagy.

Autophagy 2019 Apr 19:1-17. Epub 2019 Apr 19.

a Department of Cell Biology and Biophysics, Faculty of Biology , National and Kapodistrian University of Athens , Athens , Greece.

The ubiquitin-proteasome pathway (UPP) is central to proteostasis network (PN) functionality and proteome quality control. Yet, the functional implication of the UPP in tissue homeodynamics at the whole organism level and its potential cross-talk with other proteostatic or mitostatic modules are not well understood. We show here that knock down (KD) of proteasome subunits in Drosophila flies, induced, for most subunits, developmental lethality. Read More

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http://dx.doi.org/10.1080/15548627.2019.1596477DOI Listing

Retinal oximetry: Metabolic imaging for diseases of the retina and brain.

Prog Retin Eye Res 2019 Apr 15. Epub 2019 Apr 15.

University of Iceland, Reykjavik, Iceland.

Retinal oximetry imaging of retinal blood vessels measures oxygen saturation of hemoglobin. The imaging technology is non-invasive and reproducible with remarkably low variability on test-retest studies and in healthy cohorts. Pathophysiological principles and novel biomarkers in several retinal diseases have been discovered, as well as possible applications for systemic and brain disease. Read More

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http://dx.doi.org/10.1016/j.preteyeres.2019.04.001DOI Listing
April 2019
3 Reads

New macular findings in individuals with biallelic KLHL7 gene mutation.

BMJ Open Ophthalmol 2019 16;4(1):e000234. Epub 2019 Feb 16.

Department of Paediatric Ophthalmology, Bristol Eye Hospital, Bristol, UK.

Objective: The ubiquitin-proteasome system pathway has been recognised as a crucial cellular mechanism for the proper function of photoreceptor cells. In particular, ubiquitin ligases (E3s) recognise and ubiquitinate specific proteins for degradation. The KLHL7 protein (a BTB-Kelch protein) has been found to play an important role in this process. Read More

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http://bmjophth.bmj.com/lookup/doi/10.1136/bmjophth-2018-000
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http://dx.doi.org/10.1136/bmjophth-2018-000234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440596PMC
February 2019
1 Read

A Sporadic Case of Charcot-Marie-Tooth Disease Type 2 with Left Vocal Fold Palsy due to Mitofusin 2 Mutation.

Intern Med 2019 Apr 17. Epub 2019 Apr 17.

Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Japan.

A 33-year-old Japanese woman was referred for hoarseness. She had been diagnosed with Charcot-Marie-Tooth disease at age 3 and bilateral optic atrophy at age 15. Laryngoscopy revealed left vocal fold palsy. Read More

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http://dx.doi.org/10.2169/internalmedicine.2318-18DOI Listing

The Metabolomic Signature of Opa1 Deficiency in Rat Primary Cortical Neurons Shows Aspartate/Glutamate Depletion and Phospholipids Remodeling.

Sci Rep 2019 Apr 15;9(1):6107. Epub 2019 Apr 15.

Equipe Mitolab, Institut MITOVASC, CNRS 6015, INSERM U1083, Université d'Angers, Angers, France.

Pathogenic variants of OPA1, which encodes a dynamin GTPase involved in mitochondrial fusion, are responsible for a spectrum of neurological disorders sharing optic nerve atrophy and visual impairment. To gain insight on OPA1 neuronal specificity, we performed targeted metabolomics on rat cortical neurons with OPA1 expression inhibited by RNA interference. Of the 103 metabolites accurately measured, univariate analysis including the Benjamini-Hochberg correction revealed 6 significantly different metabolites in OPA1 down-regulated neurons, with aspartate being the most significant (p < 0. Read More

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http://dx.doi.org/10.1038/s41598-019-42554-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465244PMC

Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells.

Nucleic Acids Res 2019 Feb 14. Epub 2019 Feb 14.

Center for Healthy Aging, SUND, University of Copenhagen, 2200 Copenhagen N, Denmark.

Ataxia with oculomotor apraxia type 1 (AOA1) is an early onset progressive spinocerebellar ataxia caused by mutation in aprataxin (APTX). APTX removes 5'-AMP groups from DNA, a product of abortive ligation during DNA repair and replication. APTX deficiency has been suggested to compromise mitochondrial function; however, a detailed characterization of mitochondrial homeostasis in APTX-deficient cells is not available. Read More

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http://dx.doi.org/10.1093/nar/gkz083DOI Listing
February 2019

[The ocular manifestations of human immunodeficiency virus and syphilis coinfection].

Zhonghua Yan Ke Za Zhi 2019 Apr;55(4):267-272

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.

To investigate the ocular manifestations of human immunodeficiency virus (HIV) and syphilis coinfection. A retrospective analysis of the ocular manifestations was carried out in 27 patients (54 eyes) diagnosed as syphilis and HIV coinfection by the Department of Infectious Medicine in Peking Union Medical College Hospital during the years of 2006-2017. The research included 26 males and 1 female, aging from 24 to 76 years old, with a mean age of 40. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0412-4081.2019.04.008DOI Listing
April 2019
2 Reads

The use of mesenchymal stem cells for the treatment of progressive retinal diseases: a review.

Regen Med 2019 Apr 12. Epub 2019 Apr 12.

Polski Bank Komórek Macierzystych SA (FamiCord Group), Jana Pawła II 29, 00-867 Warsaw, Poland.

Some ocular diseases, such as dystrophies, retinal and macular degeneration, optic nerve atrophy, and Stargardt disease, are progressive and irreversible. In this review, we focus on the use of mesenchymal stem cells (MSCs) in the treatment of these diseases. In animal studies, MSC transplantation significantly delayed retinal degeneration, led to the regeneration of cone cells, and supported the survival of retinal ganglion cells and axon regeneration. Read More

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http://dx.doi.org/10.2217/rme-2019-0022DOI Listing

Development of Optic Disc Torsion in Children.

Korean J Ophthalmol 2019 Apr;33(2):173-180

Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, Korea.

Purpose: To document the development of disc torsion.

Methods: Consecutive disc photographs obtained at an interval of at least 1 year were reviewed retrospectively in 173 eyes of 173 Korean children. The angle of the vertical disc axis (AVDA) was measured in each fundus photograph with the fovea-disc center axis set at 0°. Read More

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http://dx.doi.org/10.3341/kjo.2018.0084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462475PMC

Metabolic stroke in a patient with bi-allelic OPA1 mutations.

Metab Brain Dis 2019 Apr 10. Epub 2019 Apr 10.

Metabolic Neurogenetic Service, Pediatric Neurology Unit, Wolfson Medical Center, Halochamim 62, Holon, Israel.

OPA1 related disorders include: classic autosomal dominant optic atrophy syndrome (ADOA), ADOA plus syndrome and a bi-allelic OPA1 complex neurological disorder. We describe metabolic stroke in a patient with bi-allelic OPA1 mutations. A twelve-year old girl presented with a complex neurological disorder that includes: early onset optic atrophy at one year of age, progressive gait ataxia, dysarthria, tremor and learning impairment. Read More

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http://dx.doi.org/10.1007/s11011-019-00415-2DOI Listing
April 2019
1 Read

Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome.

Eur J Paediatr Neurol 2019 Mar 28. Epub 2019 Mar 28.

Department of Pediatric Neurology, Istanbul University-Cerrahpasa, Cerrahpasa Medical School, Istanbul, Turkey.

Objective: Neurologic complications of chronic infantile neurologic, cutaneous and articular syndrome (CINCA) are well-known, whereas there are scarce data regarding neurologic features of milder cryopyrin-associated periodic syndrome (CAPS) phenotypes. We aimed to review the neurologic features in detail and summarize the other CAPS-related manifestations in 12 children.

Methods: All children with CAPS that have been followed-up from pediatric rheumatology outpatient clinic, were enrolled to the study. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10903798183056
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http://dx.doi.org/10.1016/j.ejpn.2019.03.006DOI Listing
March 2019
2 Reads

Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report.

BMC Pediatr 2019 Apr 8;19(1):98. Epub 2019 Apr 8.

Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.

Background: Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Muscle-eye-brain disease (or muscular dystrophy-dystroglycanopathy type 3 A) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly.

Case Presentation: We report clinical and genetic characteristics of a 6-year-old boy affected by muscular dystrophy-dystroglycanopathy. Read More

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https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887
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http://dx.doi.org/10.1186/s12887-019-1470-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454623PMC
April 2019
3 Reads

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.

BMC Med Genet 2019 Apr 8;20(1):62. Epub 2019 Apr 8.

Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.

Background: Reports on autosomal recessive optic atrophy (arOA) are sparse and so far, only one gene has been specifically associated with non-syndromic arOA, namely TMEM126A. To date, all reports of pathogenic TMEM126A variants are from affected individuals of Maghrebian origin, who all carry an identical nonsense variant. Here we report two novel variants in the TMEM126A gene from non-Maghreb individuals, both found in affected individuals with an arOA phenotype. Read More

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http://dx.doi.org/10.1186/s12881-019-0795-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454730PMC

Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome.

Eur J Ophthalmol 2019 Apr 7:1120672119842489. Epub 2019 Apr 7.

2 Department of Ophthalmology, Sisli Hamidiye Etfal Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.

Purpose: To evaluate the ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome.

Methods: In total, 13 patients with suspected or clinically diagnosed Wolfram syndrome underwent ophthalmic and systemic examinations and genetic analyses for Wolfram syndrome between August and October 2018.

Results: The mean age of the subjects was 24. Read More

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http://dx.doi.org/10.1177/1120672119842489DOI Listing
April 2019
3 Reads

Atypical junctional scotoma secondary to optic chiasm atrophy: a case report.

Clin Exp Optom 2019 Apr 4. Epub 2019 Apr 4.

Advanced Care Ocular Disease Service, Southern College of Optometry, Memphis, Tennessee, USA.

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http://dx.doi.org/10.1111/cxo.12903DOI Listing
April 2019
1 Read

[Acupuncture prescription of "'s triple nine needling therapy" in the treatment of optic nerve disease].

Zhongguo Zhen Jiu 2019 Mar;39(3):303-5

Department of Ophthalmology, Dongfang Hospital Affiliated to Beijing University of CM, Beijing 100078, China.

" 's triple nine needling therapy" is the crucial acupuncture prescription in treatment of eye diseases in 's academic school of ophthalmology. " 's triple nine needling therapy" includes the three points near to the eyes, the three groups of points for penetrating acupuncture around the eyes and the acupoint selection based on the general differentiation of syndrome. In this paper, the acupoint selection and the thinking of acupoint combination were introduced in the treatment of optic nerve disease on the base of the theory of " 's triple nine needling" prescription. Read More

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http://dx.doi.org/10.13703/j.0255-2930.2019.03.020DOI Listing

Indomethacin impairs mitochondrial dynamics by activating the PKCζ-p38-DRP1 pathway and inducing apoptosis in gastric cancer and normal mucosal cells.

J Biol Chem 2019 Apr 2. Epub 2019 Apr 2.

Dept of Infectious Diseases & Immunology, CSIR-Indian Institute of Chemical Biology, India.

The subcellular mechanism by which non steroidal anti-inflammatory drugs (NSAIDs) induce apoptosis in gastric cancer and normal mucosal cells is elusive because of the diverse cyclooxygenase-independent effects of these drugs. Using human gastric carcinoma cells (AGSs) and a rat gastric injury model, here we report that the NSAID indomethacin activates the protein kinase C zeta (PKCζ)-p38 MAP kinase (P38)-dynamin-related protein 1 (DRP1) pathway and thereby disrupts the physiological balance of mitochondrial dynamics by promoting mitochondrial hyper-fission and dysfunction leading to apoptosis. Notably, DRP1 knockdown or SB203580-induced P38 inhibition reduced indomethacin-induced damage to AGSs. Read More

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http://dx.doi.org/10.1074/jbc.RA118.004415DOI Listing
April 2019
2 Reads

Harding's disease: an important MS mimic.

BMJ Case Rep 2019 Mar 31;12(3). Epub 2019 Mar 31.

The Perron Institute for Neurological and Translational Science, Nedlands, Western Australia, Australia.

Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited disorder characterised by bilateral, painless visual loss which leads to severe optic atrophy. It can be associated with other conditions including multiple sclerosis (MS), movement disorders, epilepsy and cardiac arrhythmias. The association of LHON with an MS-like illness is often referred to as Harding's disease (or Harding's syndrome). Read More

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http://dx.doi.org/10.1136/bcr-2018-228337DOI Listing
March 2019
2 Reads

Exogenous hydrogen sulfide supplement accelerates skin wound healing via oxidative stress inhibition and vascular endothelial growth factor enhancement.

Exp Dermatol 2019 Mar 29. Epub 2019 Mar 29.

Department of Dermatology, Affiliated Hospital of Nantong University, Nantong, China.

Hydrogen sulfide (H S) is an important gasotransmitter with several physiological functions. However, the roles and the detailed mechanisms of H S on skin wound healing are not known well. In the present study, 129S1/SvImJ mice were intraperitoneally injected with NaHS (50 μmol/kg/d) for 2 weeks. Read More

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http://dx.doi.org/10.1111/exd.13930DOI Listing
March 2019
5 Reads

Retinal Nerve Fiber Layer Thickness Measurement for Predicting Visual Outcome after Transsphenoidal Surgery: Optic Disc Atrophy Is Not the Deciding Indicator.

World Neurosurg 2019 Mar 22. Epub 2019 Mar 22.

Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.

Background: Postoperative visual recovery is a major concern after transsphenoidal surgery. Optical coherence tomography (OCT) can visualize the anatomy of the retina, and retinal nerve fiber layer (RNFL) thinning reflects loss of optic nerve axons. Visual-evoked potential (VEP) is an electrophysiological response that confirms the nerve conductance. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.03.143DOI Listing

Chronological dynamic changes in cortico-subcortical imbalance of cerebral blood flow in a boy with CAPOS syndrome.

Brain Dev 2019 Mar 20. Epub 2019 Mar 20.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

Background: Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome is a known ATP1A3-related disorder, but little has been elucidated regarding its pathophysiology. We now report two new patients, a Japanese boy and his mother with a pathogenic mutation (c.2452G>A) in ATP1A3, who were diagnosed with CAPOS syndrome. Read More

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http://dx.doi.org/10.1016/j.braindev.2019.03.003DOI Listing

The ganglion cell complex as an useful tool in glaucoma assessment.

Rom J Ophthalmol 2018 Oct-Dec;62(4):300-303

Clinical Hospital of Ophthalmologic Emergencies, Bucharest, Romania.

Glaucoma is known as an optic neuropathy prone to progression that determines characteristic not only structural (loss of the ganglion cells as well as their axons) but also functional defects (visual field loss). To evaluate the possibility of applying ganglion cell complex analysis (GCC) in patients who associate ocular hypertension with tilted disc and marked peripapillary atrophy. In order to evaluate its components, GCC can be investigated using the Optical Coherence Tomography (OCT) revealing: ganglion cell layer (cells bodies), inner plexiform layer (dendrites and synapses), and nerve fiber layer (axons). Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421490PMC
April 2019
4 Reads

Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis.

Case Rep Neurol Med 2019 12;2019:2576826. Epub 2019 Feb 12.

Division of Neurology, Respirology, Endocrinology and Metabolism, Department of Internal Medicine, University of Miyazaki, Miyazaki, Japan.

We describe our encounter with a 39-year-old man who exhibited acute painless visual loss and progressive gait disturbance. He had tendinous xanthoma and several neuroophthalmological findings indicative of optic neuropathy in the right eye, including afferent pupillary defect, cecocentral scotoma, and optic disc swelling. Neurological examination showed cerebellar ataxia and pyramidal weakness. Read More

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https://www.hindawi.com/journals/crinm/2019/2576826/
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http://dx.doi.org/10.1155/2019/2576826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390236PMC
February 2019
2 Reads

Juvenile Diabetes & Visual Impairment: Wolfram Syndrome.

QJM 2019 Mar 19. Epub 2019 Mar 19.

Department of Molecular Genetics, University of Exeter Medical School,UK.

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http://dx.doi.org/10.1093/qjmed/hcz066DOI Listing
March 2019
2 Reads

A study of optic nerve head drusen in 38 pseudoxanthoma elasticum (PXE) patients (64 eyes). Location of optic nerve head drusen in PXE.

J Fr Ophtalmol 2019 Mar 15;42(3):262-268. Epub 2019 Mar 15.

Department of Ophthalmology, Angers University Hospital, 2, rue Larrey, 49933 Angers cedex 9, France; Pseudoxanthoma Elasticum Referral Centre, Angers University Hospital, 49933 Angers, France.

Purpose: To investigate the prevalence and location of optic nerve head drusen and their potential association with other PXE-related ophthalmic abnormalities.

Materials And Methods: Thirty-eight of the 155 patients (57 male and 98 female aged 49±17 years) included in this retrospective study had optic nerve head drusen. All of the patients underwent a comprehensive ophthalmic examination, including color images using red-free, blue and red filters, autofluorescence imaging and late-phase ICG frames. Read More

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http://dx.doi.org/10.1016/j.jfo.2018.08.007DOI Listing

Posterior scleral deformations around optic disc are associated with visual field damage in open-angle glaucoma patients with myopia.

PLoS One 2019 15;14(3):e0213714. Epub 2019 Mar 15.

Department of Ophthalmology and Visual Science, College of Medicine,The Catholic University of Korea, Seoul, South Korea.

Purpose: To identify important variables associated with visual field (VF) defects in open-angle glaucoma (OAG) with myopia.

Materials And Methods: A total of 105 OAG with myopia were enrolled in this cross-sectional study. The disc tilt ratio, disc torsion degree, disc-foveal angle, and area of peripapillary atrophy (PPA) were measured from red-free fundus photographs. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0213714PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420008PMC

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.

Eur J Paediatr Neurol 2019 Feb 22. Epub 2019 Feb 22.

Department of Pediatrics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

Mutations in ATP1A3 lead to different phenotypes having in common acute neurological decompensation episodes triggered by a specific circumstance and followed by sequelae. Alongside Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, Sensorineural hearing loss syndrome (CAPOS), a new Relapsing Encephalopathy with Cerebellar Ataxia (RECA) phenotype was published in 2015. We describe herein eight new pediatric cases. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.02.004DOI Listing
February 2019
4 Reads

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.

Cold Spring Harb Mol Case Stud 2019 Mar 8. Epub 2019 Mar 8.

Baylor College of Medicine

DNM1L encodes a GTPase of the dynamin superfamily which plays a crucial role in mitochondrial and peroxisomal fission. Pathogenic variants affecting the middle domain and the GTPase domain of DNM1L have been implicated in encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1, MIM #614388). Patients show variable phenotypes ranging from severe hypotonia leading to death in the neonatal period to developmental delay/regression, with or without seizures. Read More

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http://dx.doi.org/10.1101/mcs.a003673DOI Listing

Retinal measurements predict 10-year disability in multiple sclerosis.

Ann Clin Transl Neurol 2019 Feb 19;6(2):222-232. Epub 2019 Jan 19.

Department of Neurology Johns Hopkins University Baltimore Maryland.

Objective: Optical coherence tomography (OCT)-derived measures of the retina correlate with disability and cortical gray matter atrophy in multiple sclerosis (MS); however, whether such measures predict long-term disability is unknown. We evaluated whether a single OCT and visual function assessment predict the disability status 10 years later.

Methods: Between 2006 and 2008, 172 people with MS underwent Stratus time domain-OCT imaging [160 with measurement of total macular volume (TMV)] and high and low-contrast letter acuity (LCLA) testing ( = 150; 87%). Read More

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http://doi.wiley.com/10.1002/acn3.674
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http://dx.doi.org/10.1002/acn3.674DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389740PMC
February 2019
7 Reads

Oculofacial alterations in NBAS-SOPH like mutations: Case report.

Eur J Ophthalmol 2019 Mar 8:1120672119836335. Epub 2019 Mar 8.

2 Department of Clinical Sciences and Community Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Multimedica, University of Milan, Eye Clinic San Giuseppe Hospital, Milan, Italy.

Purpose:: To describe the clinical features of a rare case of NBAS-SOPH-like mutations; to emphasize special aspects of the ocular and oro-facial regions.

Methods:: Case report.

Case Description:: We present a 5-year-old girl initially examined for her dysmorphic features, mental delay, strabismus, and high myopia. Read More

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http://dx.doi.org/10.1177/1120672119836335DOI Listing
March 2019
1 Read

[Clinical characteristics of myelin oligodendrocyte glycoprotein antibody-positive optic neuritis].

Authors:
H L Song S H Wei

Zhonghua Yan Ke Za Zhi 2019 Mar;55(3):174-179

Department of Ophthalmology, Chinese PLA General Hospital, Beijing 100853, China.

To investigate the clinical characteristics and prognosis of myelin oligodendrocyte glycoprotein(MOG) antibody-positive optic neuritis (MOG-ON). Retrospective case series study. A total of 65 patients diagnosed with MOG-ON at the Department of Ophthalmology of the Chinese People's Liberation Army General Hospital during January 2016 and October 2017 were selected. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0412-4081.2019.03.005DOI Listing
March 2019
1 Read

A Novel Missense OPA1 Mutation in a Patient with Dominant Optic Atrophy and Cervical Dystonia.

Mov Disord Clin Pract 2019 Feb 12;6(2):171-173. Epub 2018 Nov 12.

Neurogenetics Unit, Department of Neurology Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC) Madrid Spain.

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http://doi.wiley.com/10.1002/mdc3.12699
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http://dx.doi.org/10.1002/mdc3.12699DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384180PMC
February 2019
4 Reads

Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study.

Front Pediatr 2019 14;7:35. Epub 2019 Feb 14.

Fondation Ophtalmologique Adolphe de Rothschild and Université Paris Descartes, Paris, France.

Precocious and early puberty are reported findings in children with pre-existing medical conditions including certain syndromes. Series pertaining to such situations are limited. A retrospective, single-center study was conducted on children with central precocious puberty (onset before the age of 8 years in girls and 9 years in boys) or early puberty (onset between 8 and 9 years in girls and between 9 and 10. Read More

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http://dx.doi.org/10.3389/fped.2019.00035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383411PMC
February 2019
2 Reads

Analysis of Inherited Optic Neuropathies.

Klin Monbl Augenheilkd 2019 Apr 4;236(4):451-461. Epub 2019 Mar 4.

Department of Ophthalmology, University of Basel, Basel, Switzerland.

Background: Inherited optic neuropathies (IONs) cover a spectrum of clinically and genetically heterogenic conditions. Genetic evaluation of patients with IONs may enable their better clinico-diagnostic assessment and management of the disease. The aim of the present study was to determine the genetic condition related to the phenotype in patients with diverse inherited optic neuropathies. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0829-6828
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http://dx.doi.org/10.1055/a-0829-6828DOI Listing
April 2019
9 Reads

Ocular Manifestations in Hemodialysis Patients: Importance of Ophthalmic Examination in Prevention of Ocular Sequels.

Int J Prev Med 2019 12;10:20. Epub 2019 Feb 12.

Department of Ophthalmology, Isfahan Eye Research Center, Isfahan, Iran.

Background: Hemodialysis (HD)-associated ocular abnormalities are one of the causes of morbidity among people undergoing HD. This study evaluates the frequency of ocular abnormalities in end-stage renal disease (ESRD) patients undergoing HD and their potential link to HD and demographic parameters.

Methods: This cross-sectional study examined 242 eyes of 121 patients with ESRD undergoing regular HD after excluding the ineligible subjects. Read More

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http://dx.doi.org/10.4103/ijpvm.IJPVM_464_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390423PMC
February 2019
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Previously Diagnosed Leber's Hereditary Optic Neuropathy with Clinical Signs of Idiopathic Intracranial Hypertension Responsive to Acetazolamide Therapy.

J Ophthalmic Vis Res 2019 Jan-Mar;14(1):109-113

Department of Ophthalmology, Red Crescent Hospital, Dubai, UAE.

Purpose: To present a case of suspected Leber's hereditary optic neuropathy (LHON) with MRI and OCT findings compatible with pseudotumor cerebri responsive to acetazolamide therapy.

Case Report: A five-year-old boy referred to our clinic with optic atrophy and low vision was originally diagnosed with LHON. Laboratory tests were negative for LHON, while OCT and MRI were consistent with pseudotumor cerebri. Read More

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http://dx.doi.org/10.4103/jovr.jovr_85_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6388523PMC
March 2019
1 Read

Indicating and predicting role of the horizontal C/D ratio in preclinical diabetic retinopathy associated with chronic angle-closure glaucoma.

Int J Ophthalmol 2019 18;12(2):268-274. Epub 2019 Feb 18.

Department of Vitreoretinopathy, Tianjin Eye Hospital, Tianjin 300020, China.

Aim: To observe morphological optic disc characteristics in patients with preclinical diabetic retinopathy (DR) associated with chronic angle-closure glaucoma (CACG).

Methods: Twenty-two cases (43 eyes) of preclinical DR associated with CACG were enrolled in group A; 24 preclinical DR cases (46 eyes) were enrolled in group B; 26 CACG cases (51 eyes) were enrolled in group C; and 49 normal controls (49 eyes) were enrolled in group D. All underwent optical coherence tomography to measure the horizontal C/D ratio (HCDR), C/D area ratio (CDaR), vertical C/D ratio (VCDR), rim area (RA), cup volume (CV), disc area (DA) and average retinal nerve fiber layer (RNFL) thickness. Read More

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http://dx.doi.org/10.18240/ijo.2019.02.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376221PMC
February 2019

Ocular toxicity of intravitreal melphalan for retinoblastoma in Chinese patients.

BMC Ophthalmol 2019 Feb 26;19(1):61. Epub 2019 Feb 26.

Department of Ophthalmology, Eye, Ear, Nose, and Throat Hospital of Fudan University, Shanghai Key Laboratory of Visual Impairmentand Restoration of Fudan University, Shanghai, 200031, China.

Background: To evaluate the efficacy, complications, and clinical characteristics, including the ocular toxicity, of intravitreal melphalan(IVM) treatment for vitreous seeding in Chinese retinoblastoma patients.

Methods: This was a retrospective, non-comparative analysis including 30 consecutive eyes of 23 patients with viable persistent or recurrent vitreous seeding following retinoblastoma treatment. All of the eyes received IVM injections (20-33 μg). Read More

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http://dx.doi.org/10.1186/s12886-019-1059-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390546PMC
February 2019
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Premature Expression of Pseudoexfoliation Syndrome With Presenile Cataract in a 28-Year-Old Lady.

J Glaucoma 2019 Feb 21. Epub 2019 Feb 21.

L V Prasad Eye Institute, Banjara Hills, Hyderabad.

Purpose: We report a case of premature expression of pseudoexfoliation syndrome with presenile cataract in a 28-year-old lady with primary developmental glaucoma who had undergone glaucoma filtration surgery 26 years ago.

Methods/results: We report a case of a 28-year-old Indian lady with progressive diminution of vision associated with photophobia in the left eye for 5 years and loss of vision in the right eye since childhood. She underwent glaucoma filtration surgery in the left eye at the age of 2 and was on 2 topical glaucoma medications when she presented to us. Read More

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http://dx.doi.org/10.1097/IJG.0000000000001219DOI Listing
February 2019
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Peripapillary and macular morpho-vascular changes in patients with genetic or clinical diagnosis of autosomal dominant optic atrophy: a case-control study.

Graefes Arch Clin Exp Ophthalmol 2019 May 24;257(5):1019-1027. Epub 2019 Feb 24.

Department of Ophthalmology, Centro Hospitalar e Universitário de Coimbra (CHUC), Praceta Prof. Mota Pinto, 3049, Coimbra, Portugal.

Purpose: To evaluate the macular and peripapillary morpho-vascular changes in ADOA, using optical coherence tomography (OCT) and OCT angiography (OCTA).

Methods: Prospectively defined, cross-sectional case-control study. Consecutive patients with a genetic or clinical diagnosis of ADOA along with age- and sex-matched controls were included. Read More

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http://dx.doi.org/10.1007/s00417-019-04267-5DOI Listing

[Epidemiology and anatomy of myopia].

Ophthalmologe 2019 Feb 22. Epub 2019 Feb 22.

Privatpraxis Jonas, Adenauerplatz 2, 69115, Heidelberg, Deutschland.

Background: The prevalence of myopia has markedly increased, particularly in the young generations in East and Southeast Asia.

Objective: The aim is to describe the epidemiology of myopia and the morphological alterations associated with myopia.

Material And Methods: The results of epidemiological, clinical and histological studies are summarized. Read More

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http://dx.doi.org/10.1007/s00347-019-0858-6DOI Listing
February 2019

Color perception impairment following optic neuritis and its association with retinal atrophy.

J Neurol 2019 May 20;266(5):1160-1166. Epub 2019 Feb 20.

Division of Neuroinflammation and Glial Biology, Department of Neurology, University of California, San Francisco, CA, USA.

Background: Emphasis is often placed on the good recovery of vision following optic neuritis (ON). However, patients continue to perceive difficulties in performing everyday visual tasks and have reduced visual quality of life. This is in addition to documented permanent loss of retinal volume. Read More

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http://dx.doi.org/10.1007/s00415-019-09246-8DOI Listing
May 2019
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Mitoquinone attenuates blood-brain barrier disruption through Nrf2/PHB2/OPA1 pathway after subarachnoid hemorrhage in rats.

Exp Neurol 2019 Feb 16;317:1-9. Epub 2019 Feb 16.

Department of Physiology and Pharmacology, Loma Linda University, 11041 Campus St, Risley Hall, Room 219, Loma Linda, CA 92354, USA. Electronic address:

Background And Purpose: Mitochondrial dysfunction is involved in the mechanism of early brain injury (EBI) following subarachnoid hemorrhage (SAH). Blood-brain barrier disruption is a devastating outcome in the early stage of SAH. In this study, we aimed to investigate the role of a mitochondria-related drug Mitoquinone (MitoQ) in blood-brain barrier disruption after SAH in rats. Read More

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http://dx.doi.org/10.1016/j.expneurol.2019.02.009DOI Listing
February 2019
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Neurophysiological effect of transorbital electrical stimulation: Early results in advanced optic atrophy.

Brain Stimul 2019 Feb 7. Epub 2019 Feb 7.

Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Neurology Institute, Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1016/j.brs.2019.02.002DOI Listing
February 2019

The vicious circle between mitochondrial oxidative stress and dynamic abnormality mediates triethylene glycol dimethacrylate-induced preodontoblast apoptosis.

Free Radic Biol Med 2019 Feb 15;134:644-656. Epub 2019 Feb 15.

Institute of Stomatology, School and Hospital of Stomatology, Wenzhou Medical University, Wenzhou, PR China; Department of Endodontics, School and Hospital of Stomatology, Wenzhou Medical University, Wenzhou, PR China. Electronic address:

Oxidative stress (OS) plays crucial roles in triethylene glycol dimethacrylate (TEGDMA, a major component in dental resin)-induced apoptosis of dental pulp cells. Mitochondria are important target organelles for regulating the balance of OS, meanwhile, imbalance of the mitochondrial dynamic associated with mitochondrial dysfunction is one major molecular mechanism for oxidative damages. However, whether these mitochondrial dependent pathways were involved in the apoptosis of dental pulp cells induced by TDGDMA remains unclarified. Read More

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http://dx.doi.org/10.1016/j.freeradbiomed.2019.02.013DOI Listing
February 2019
2 Reads

Intrachiasmatic craniopharyngioma: Assessment of visual outcome with optical coherence tomography after complete surgical removal.

Surg Neurol Int 2019 21;10. Epub 2019 Jan 21.

Department of Neurosurgery, La Princesa University Hospital, Madrid, Spain.

Background: Optic chiasm invasion by a craniopharyngioma (CP) is exceptional. Surgical treatment of intrachiasmatic CPs associates a high risk of chiasm injury, which should be properly addressed before surgery.

Case Description: We present a 46-year-old woman admitted to the hospital with low visual acuity (0. Read More

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http://dx.doi.org/10.4103/sni.sni_292_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357539PMC
January 2019
1 Read