10,327 results match your criteria Optic Atrophy


Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.

J Mol Neurosci 2020 Jul 2. Epub 2020 Jul 2.

Pediatric Department, The Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Qingdao, 266000, Shandong, People's Republic of China.

Metachromatic leukodystrophy(MLD) is an autosomal recessive hereditary neurodegenerative lysosomal storage disorder caused by the mutations in arylsulfatase A gene (ARSA), which results in the deficiency of ARSA enzyme. The common clinical characteristics of MLD are abnormal gait, and then gradually appears ataxia, spastic quadriplegia, optic atrophy, cortical blindness, and dementia. We describe two patients in China who were diagnosed with MLD and find that the four ARSA gene mutations (c. Read More

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http://dx.doi.org/10.1007/s12031-020-01643-3DOI Listing

[Down-regulation of Protein Phosphatase 2A Catalytic Subunit Involved in Mitochondria Fission/fusion Dynamics Imbalance and Functional Impairment Induced by Human tau].

Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2020 Jun;42(3):297-306

Department of Pathophysiology,Medical school,China Three Gorges University,Yichang Hubei 443002,China.

To explore whether the downregulation of protein phosphatase 2A catalytic subunit(PP2Ac)involved in the pathogenesis of mitochondria fission/fusion dynamics and functional imbalance induced by human tau accumulation. After cotransfection with mito-dsRed plasmids and pIRES-eGFP-tau40 plasmids 48 hours,the rat primary hippocampal neurons were observed with a laser scanning confocal microscope for their changes in shape and distribution of mitochondria.The expressions of mitochondria fission/fusion protein and PP2Ac and PP2Ab were detected by Western blotting. Read More

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http://dx.doi.org/10.3881/j.issn.1000-503X.12163DOI Listing

[Unilateral optic atrophy in a 9-year-old patient].

Ophthalmologe 2020 Jul 1. Epub 2020 Jul 1.

Klinik für Augenheilkunde, Universitätsmedizin Göttingen, Göttingen, Deutschland.

A 9‑year-old patient presented with a reduction of visual acuity in the left eye, which was incidentally noticed 2 weeks previously. Funduscopy revealed a mild vitritis, a pale optic disk, narrowed blood vessels and an increased reflex of the retinal surface. The values in the blood examination were normal apart from eosinophilia and an elevated immunoglobulin E (IgE) antibody titer. Read More

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http://dx.doi.org/10.1007/s00347-020-01147-wDOI Listing

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.

Acta Neuropathol Commun 2020 Jun 29;8(1):93. Epub 2020 Jun 29.

Mitochondrial dysfunctions in neurodegeneration Unit, Division of Neuroscience, Ospedale San Raffaele, Milan, Italy.

Autosomal dominant optic atrophy (ADOA) is a neuro-ophthalmic condition characterized by bilateral degeneration of the optic nerves. Although heterozygous mutations in OPA1 represent the most common genetic cause of ADOA, a significant number of cases remain undiagnosed.Here, we describe a family with a strong ADOA history with most family members spanning three generation having childhood onset of visual symptoms. Read More

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http://dx.doi.org/10.1186/s40478-020-00975-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325028PMC

A single-arm study of systemic and sub-Tenon chemotherapy for Groups C and D intraocular retinoblastoma: A Children's Oncology Group study (ARET 0231).

Pediatr Blood Cancer 2020 Jun 26:e28502. Epub 2020 Jun 26.

The Retinoblastoma Center of Houston, Houston, Texas.

Background: Eyes with Group D intraocular retinoblastoma have low salvage rates. A pilot study showed safety and efficacy of sub-Tenon's fascia carboplatin with systemic chemotherapy supporting further study.

Methods: Children with newly diagnosed bilateral intraocular retinoblastoma with at least one remaining Group C or D eye were treated with six courses of carboplatin/etoposide/vincristine (CEV) with sub-Tenon's fascia carboplatin for Group C/D eyes during courses 2-4. Read More

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http://dx.doi.org/10.1002/pbc.28502DOI Listing

An Update on Imaging in Idiopathic Intracranial Hypertension.

Front Neurol 2020 10;11:453. Epub 2020 Jun 10.

Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.

Neuroimaging plays an essential role in the diagnostic workup of idiopathic intracranial hypertension with the aims to exclude secondary causes of elevated intracranial pressure and to identify imaging signs that are commonly observed in this disorder. As a valuable expansion of brain imaging, the imaging of the retina using optical coherence tomography has been of increasing value. In particular, this is the case with the latest devices that allow a more accurate distinction between a reduction in retinal nerve fiber layer thickness due to an improvement of papilledema or due to a worsening caused by optic nerve atrophy. Read More

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http://dx.doi.org/10.3389/fneur.2020.00453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7297913PMC

Crouzon Syndrome in a Ten-week-old Infant: A Case Report.

Saudi J Med Med Sci 2020 May-Aug;8(2):146-150. Epub 2020 Apr 17.

Department of Surgery, All India Institute of Medical Sciences, Raipur, Chhattisgarh, India.

Crouzon syndrome is a rare genetic disorder. We report a rare case of Crouzon syndrome in a very young infant with distinct features of craniofacial malformations. A 10-week-old male child presented with features of craniofacial dysostosis with abnormal shape of the skull, proptosis, hypertelorism, curved nose and frontal bossing. Read More

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http://dx.doi.org/10.4103/sjmms.sjmms_38_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305672PMC

Macular Telangiectasia Type 2: Visual Acuity, Disease End Stage, and the MacTel Area: MacTel Project Report Number 8.

Ophthalmology 2020 Apr 21. Epub 2020 Apr 21.

Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, and Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom. Electronic address:

Purpose: To report the visual acuity measures from the macular telangiectasia type 2 (MacTel) registry and to investigate and describe phenotypic findings in eyes with substantial vision loss resulting from MacTel.

Design: Cross-sectional multicenter study.

Participants: Participants in the MacTel Natural History Observation Registration Study. Read More

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http://dx.doi.org/10.1016/j.ophtha.2020.03.040DOI Listing

Hypertensive Retinopathy Secondary to Anlotinib Treatment.

Front Pharmacol 2020 5;11:843. Epub 2020 Jun 5.

Department of Ophthalmology, Central South University Xiangya School of Medicine Affiliated Haikou Hospital, Haikou, China.

Purpose: We report a case of a middle-aged woman who developed hypertensive retinopathy following oral administration of Anlotinib.

Observations: A 48-year-old woman presented to our hospital with sudden painless loss of vision in both eyes combined with headache, nausea, and vomiting following oral administration of Anlotinib. This drug is often used to control cancer progression. Read More

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http://dx.doi.org/10.3389/fphar.2020.00843DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291867PMC

Suprasellar germinoma with hypopituitarism in an 18-year old man: A case report and review of literature.

Clin Neurol Neurosurg 2020 Jun 15;196:106026. Epub 2020 Jun 15.

Department of Pathology, Acibadem Medical School, University of Acibadem, Istanbul, Turkey.

An 18 year old patient was presented to the ophtalmology outpatient clinic with blurrred vision, headache and fatigue for 6 months. Ophtalmological examination showed loss of visual acuity in the left eye and decreased in the right eye and bilateral optic atrophy. Further physical examination pointed out delayed sexual development. Read More

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http://dx.doi.org/10.1016/j.clineuro.2020.106026DOI Listing

Management and Visual Outcomes of Acute Bacterial Endophthalmitis Following Intravitreal Injection of Contaminated Bevacizumab in a Single Day.

Ophthalmic Surg Lasers Imaging Retina 2020 Jun;51(6):346-352

Background And Objective: Bevacizumab requires compounding for off-label intravitreal injection, thus creating a risk of possible contamination during preparation.

Patients And Methods: This retrospective, consecutive case series from a single site included patients who developed culture-proven acute endophthalmitis after intravitreal injection with contaminated bevacizumab. All patients suspected of endophthalmitis had vitreous biopsy and microbial cultures prior to initiation of treatment and were managed with immediate tap and injection of antibiotics followed early by pars plana vitrectomy. Read More

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http://dx.doi.org/10.3928/23258160-20200603-05DOI Listing

Symmetric arrangement of mitochondria:plasma membrane contacts between adjacent photoreceptor cells regulated by Opa1.

Proc Natl Acad Sci U S A 2020 Jun 22. Epub 2020 Jun 22.

UCL Institute of Ophthalmology, University College London, EC1V 9EL London, United Kingdom;

Mitochondria are known to play an essential role in photoreceptor function and survival that enables normal vision. Within photoreceptors, mitochondria are elongated and extend most of the inner-segment length, where they supply energy for protein synthesis and the phototransduction machinery in the outer segment, as well as acting as a calcium store. Here, we examined the arrangement of the mitochondria within the inner segment in detail using three-dimensional (3D) electron microscopy techniques and show they are tethered to the plasma membrane in a highly specialized arrangement. Read More

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http://dx.doi.org/10.1073/pnas.2000304117DOI Listing

Bilateral epiretinal membrane formation following intravitreal injections of autologous mesenchymal stem cells.

Retin Cases Brief Rep 2020 Jun 17. Epub 2020 Jun 17.

Tufts Medical Center, Department of Ophthalmology, Boston, MA.

Purpose: The authors describe a case of new bilateral epiretinal membranes and vitreous cells following intravitreal and subTenon's injections of bone marrow-derived stem cells.

Methods: Case report of a 43-year-old man with OPA-1 autosomal dominant optic atrophy who self-enrolled in a stem cell therapy clinical trial and received simultaneous bilateral intravitreal and subTenon's injections of bone marrow-derived stem cells.

Results: Within one month of receiving the injections, the patient developed epiretinal membranes and vitreous cells in both eyes, seen with optical coherence tomography. Read More

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http://dx.doi.org/10.1097/ICB.0000000000001032DOI Listing

Potentially blinding adverse drug reaction to peribulbar lignocaine anesthesia: A rare case report.

Indian J Pharmacol 2020 Mar-Apr;52(2):138-141. Epub 2020 Jun 3.

Department of Vitreo-Retina Services, Sri Sankaradeva Nethralaya, Guwahati, Assam, India.

Peribulbar lignocaine anesthesia is commonly used in ophthalmic surgeries. It rarely causes any severe allergic reaction. A 63-year-old male presented with complicated pseudophakia. Read More

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http://dx.doi.org/10.4103/ijp.IJP_4_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7282685PMC

Opa1 Deficiency Leads to Diminished Mitochondrial Bioenergetics With Compensatory Increased Mitochondrial Motility.

Invest Ophthalmol Vis Sci 2020 Jun;61(6):42

,.

Purpose: Retinal ganglion cells (RGCs) are susceptible to mitochondrial deficits and also the major cell type affected in patients with mutations in the OPA1 gene in autosomal dominant optic atrophy (ADOA). Here, we characterized mitochondria in RGCs in vitro from a heterozygous B6; C3-Opa1Q285STOP (Opa1+/-) mouse model to investigate mitochondrial changes underlying the pathology in ADOA.

Methods: Mouse RGCs were purified from wild-type and Opa1+/- mouse retina by two-step immunopanning. Read More

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http://dx.doi.org/10.1167/iovs.61.6.42DOI Listing

Expanded Endoscopic Endonasal Approach For Removal of a Tuberculum Sella Meningioma.

World Neurosurg 2020 Jun 16. Epub 2020 Jun 16.

Division of Neurosurgery, Toronto Western Hospital/University Health Network, University of Toronto, Toronto, Canada.

This 46-year-old female patient presented after a 6-month progressive right sided visual loss, with a visual acuity of 20/60, a temporo/infranasal visual field deficit and optic atrophy. The MRI disclosed a tuberculum sella meningioma with minimal right medial canal invasion, however, no encasement of carotid arteries. Tuberculum sella meningiomas represent 5-10% of intracranial meningiomas and are surgically challenging tumors that can severely hinder vision. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.06.067DOI Listing

Biotinidase deficiency in differential diagnosis of neuromyelitis optica spectrum disorder.

Mult Scler Relat Disord 2020 Jun 10;44:102280. Epub 2020 Jun 10.

Ataturk University Faculty of Medicine, Department of Neurology, Erzurum, Turkey. Electronic address:

We present a case of biotinidase deficiency mimicking neuromyelitis optica spectrum disorder (NMOSD) with tetraparesis and transverse myelitis, who was diagnosed with profound biotinidase deficiency after developing optic atrophy and hearing loss before the age of one year, and was untreated for six months. Biotinidase deficiency should be considered in the differential diagnosis of seronegative NMOSD. Read More

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http://dx.doi.org/10.1016/j.msard.2020.102280DOI Listing

Optic nerve sheath fenestration via a supero-medial eyelid skin crease approach for the treatment of idiopathic intracranial hypertension in a UK population.

Eye (Lond) 2020 Jun 17. Epub 2020 Jun 17.

Department of Ophthalmology, Royal Hallamshire Hospital, Sheffield, S10 2JF, UK.

Background/aims: Optic nerve sheath fenestration (ONSF) is a surgical intervention in the management of idiopathic intracranial hypertension (IIH) infrequently performed in the United Kingdom. Numerous surgical approaches have been described, including medial transconjunctival, lateral and endoscopic. We describe our outcomes and complications from ONSF via a supero-medial eyelid skin crease incision in patients with IIH. Read More

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http://dx.doi.org/10.1038/s41433-020-1024-8DOI Listing

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.

Neurol Genet 2020 Jun 20;6(3):e428. Epub 2020 May 20.

MitoLab Team (M.C., A.C., C.B., D.G., V.D.-D., S.L., V.P., P.R., D.B., P.A.-B., G.L.), UMR CNRS 6015-INSERM U1083, Institut MitoVasc, Angers University and Hospital; Genetics and immuno-cell therapy Team (M.C.), Mohammed First University, Oujda, Morocco; Departments of Biochemistry and Genetics (C.B., D.G., V.D.-D., E.C., V.P., P.R., D.B., P.A.-B.), University Hospital Angers; Department of Ophthalmology (A.M.), Centre Hospitalier Universitaire Saint-Pierre, Brussels, Belgium; Neuroophthalmology Department (C.V.), Rothschild Ophthalmologic Foundation, Paris; Exploration of Visual Function and Neuro-Ophthalmology Department (V.S., S.D.-D., I.D.B.), Lille University Hospital, Rue Emilie Laine, Lille Cedex; CHU Bordeaux (C.G.), Service de Génétique Médicale, Centre de Référence « Neurogénétique » and Université de Bordeaux, INSERM U 1211, Laboratoire Maladies Rares, Génétique et Métabolisme (MRGM) Bordeaux; School of Optometry and Vision Sciences (M.V.), Cardiff University and Cardiff Eye Unit, University Hospital of Wales; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology (N.J., P.Y.-W.-M.), London; Department of Clinical Neurosciences (P.Y.-W.-M.), Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, University of Cambridge; Cambridge Eye Unit (P.Y.-W.-M.), Addenbrooke's Hospital, Cambridge University Hospitals, UK; IRCCS Istituto Delle Scienze Neurologiche di Bologna (F.T., L.C., C.L.M., V.C.), Bellaria Hospital; Unit of Neurology (C.L.M., V.C.), Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy; Centre de Compétence Maladies Rares (X.Z.), Clinique Pluridisciplinaire Jules Verne, Nantes; and National Centre in Rare Diseases (I.M.), Genetics of Sensory Diseases, University Hospital, Montpellier, France.

Objective: To improve the genetic diagnosis of dominant optic atrophy (DOA), the most frequently inherited optic nerve disease, and infer genotype-phenotype correlations.

Methods: Exonic sequences of 22 genes were screened by new-generation sequencing in patients with DOA who were investigated for ophthalmology, neurology, and brain MRI.

Results: We identified 7 and 8 new heterozygous pathogenic variants in and . Read More

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http://dx.doi.org/10.1212/NXG.0000000000000428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251510PMC

Early-onset cerebellar ataxia in a patient with CMT2A2.

Cold Spring Harb Mol Case Stud 2020 Jun 12;6(3). Epub 2020 Jun 12.

Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, New York 10314, USA.

A 9-yr 8-mo-old right-handed female presented with a history of gait difficulties, which first became apparent at age 9 mo of age, along with slurred speech and hand tremors while holding a tray. Her past medical history was significant for global developmental delay, and she was attending fourth grade special education classes. On examination, she had an ataxic gait, dysarthria, absent deep tendon reflexes, and flexor plantar responses. Read More

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http://dx.doi.org/10.1101/mcs.a005108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304361PMC

Analysis of Mitochondrial Membrane Fusion GTPase OPA1 Expressed by the Silkworm Expression System.

Methods Mol Biol 2020 ;2159:115-127

Department of Protein Biochemistry, Institute of Life Science, Kurume University, Fukuoka, Japan.

Mitochondria are highly dynamic organelles, which move and fuse to regulate their shape, size, and fundamental function. The dynamin-related GTPases play a critical role in mitochondrial membrane fusion. In vitro reconstitution of membrane fusion using recombinant proteins and model membranes is quite useful in elucidating the molecular mechanisms underlying membrane fusion and to identify the essential elements involved in fusion. Read More

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http://dx.doi.org/10.1007/978-1-0716-0676-6_9DOI Listing
January 2020

Melatonin regulates mitochondrial dynamics and alleviates neuron damage in prion diseases.

Aging (Albany NY) 2020 Jun 10;12(11):11139-11151. Epub 2020 Jun 10.

Key Laboratory of Animal Epidemiology and Zoonosis, Ministry of Agriculture, National Animal Transmissible Spongiform Encephalopathy Laboratory, College of Veterinary Medicine, China Agricultural University, Beijing 100193, China.

Prion diseases are neurodegenerative diseases associated with neuron damage and behavioral disorders in animals and humans. Melatonin is a potent antioxidant and is used to treat a variety of diseases. We investigated the neuroprotective effect of melatonin on prion-induced damage in N2a cells. Read More

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http://dx.doi.org/10.18632/aging.103328DOI Listing
June 2020
6.432 Impact Factor

Subjective and polysomnographic evaluation of sleep in mitochondrial optic neuropathies.

J Sleep Res 2020 Jun 10:e13051. Epub 2020 Jun 10.

Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Leber hereditary optic neuropathy and Dominant optic atrophy are associated with a selective loss of retinal ganglion cells (RGC). A subtype of RGC is responsible for light-dependent physiological processes. The aim of our study was to evaluate both subjective and objective sleep parameters in 36 (18 males; mean age 33. Read More

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http://dx.doi.org/10.1111/jsr.13051DOI Listing

Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.

Neuromuscul Disord 2020 Apr 29. Epub 2020 Apr 29.

Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany. Electronic address:

PDXK encodes for a pyridoxal kinase, which converts inactive B vitamers to the active cofactor pyridoxal 5'-phosphate (PLP). Recently, biallelic pathogenic variants in PDXK were shown to cause axonal Charcot-Marie-Tooth disease with optic atrophy that responds to PLP supplementation. We present two affected siblings carrying a novel biallelic missense PDXK variant with a similar phenotype with earlier onset. Read More

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http://dx.doi.org/10.1016/j.nmd.2020.04.004DOI Listing

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.

Ann Clin Transl Neurol 2020 Jun 9;7(6):1013-1028. Epub 2020 Jun 9.

Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.

Objective: We describe the clinical characteristics and genetic etiology of several new cases within the ACO2-related disease spectrum. Mitochondrial aconitase (ACO2) is a nuclear-encoded tricarboxylic acid cycle enzyme. Homozygous pathogenic missense variants in the ACO2 gene were initially associated with infantile degeneration of the cerebrum, cerebellum, and retina, resulting in profound intellectual and developmental disability and early death. Read More

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http://dx.doi.org/10.1002/acn3.51074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318087PMC

Onodi Cell Mucocele-Associated Optic Neuropathy: A Rare Case Report and Review of the Literature.

J Curr Ophthalmol 2020 Jan-Mar;32(1):107-113. Epub 2020 Mar 23.

2 Department of Ophthalmology, Aristotle University of Thessaloniki, Faculty of Medical School, Papageorgiou General Hospital, Thessaloniki, Greece.

Purpose: To present a rare case report of Onodi cell-associated optic neuropathy, conducting a review of the literature.

Methods: A 36-year-old male presented with an 18-h history of acute deterioration of vision in his left eye (LE). Ophthalmic examination and Magnetic Resonance Imaging (MRI) were consistent with an Onodi cell-associated compressive optic neuropathy. Read More

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http://dx.doi.org/10.1016/j.joco.2019.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7265265PMC

Focal Scleral Nodule: A New Name for Solitary Idiopathic Choroiditis and Unifocal Helioid Choroiditis.

Ophthalmology 2020 Apr 22. Epub 2020 Apr 22.

Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.

Purpose: To evaluate multimodal imaging findings of solitary idiopathic choroiditis (SIC; also known as unifocal helioid choroiditis) to clarify its origin, anatomic location, and natural course.

Design: Multicenter retrospective observational case series.

Participants: Sixty-three patients with SIC in 1 eye. Read More

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http://dx.doi.org/10.1016/j.ophtha.2020.04.018DOI Listing

Genotypic and phenotypic characteristics of Korean children with childhood-onset Leber's hereditary optic neuropathy.

Graefes Arch Clin Exp Ophthalmol 2020 Jun 7. Epub 2020 Jun 7.

Department of Ophthalmology and Visual Science, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 222, Banpo-daero, Seocho-gu, Seoul, 06591, Republic of Korea.

Purpose: We sought to identify the phenotypic and genotypic characteristics of Korean children with genetically confirmed Leber's hereditary optic neuropathy (LHON).

Methods: The medical records of 64 genetically confirmed LHON patients were reviewed. Seventeen patients aged 13 years or younger with optic atrophy with positive mitochondrial DNA (mtDNA) mutations were considered to demonstrate childhood-onset LHON. Read More

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http://dx.doi.org/10.1007/s00417-020-04757-xDOI Listing

Integrated analysis of the molecular pathogenesis of FDXR-associated disease.

Cell Death Dis 2020 Jun 4;11(6):423. Epub 2020 Jun 4.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA, 45229.

The mitochondrial flavoprotein ferredoxin reductase (FDXR) is required for biogenesis of iron-sulfur clusters and for steroidogenesis. Iron-sulfur (Fe-S) clusters are ubiquitous cofactors essential to various cellular processes, and an increasing number of disorders are associated with disruptions in the synthesis of Fe-S clusters. Our previous studies have demonstrated that hypomorphic mutations in FDXR cause a novel mitochondriopathy and optic atrophy in humans and mice, attributed in part to reduced function of the electron transport chain (ETC) as well as elevated production of reactive oxygen species (ROS). Read More

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http://dx.doi.org/10.1038/s41419-020-2637-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272433PMC
June 2020
5.014 Impact Factor

Two neurologic facets of CTLA4-related haploinsufficiency.

Neurol Neuroimmunol Neuroinflamm 2020 Jul 4;7(4). Epub 2020 Jun 4.

From the Department of Neurology (X.A., C.C.-D., P.L.), Montpellier University Hospital, INSERM, Univ Montpellier, Montpellier; Internal Medicine Department (R.G.), Caremeau University Hospital, Nimes; Department of Paediatrics (E.J.), Montpellier University Hospital, INSERM, Univ Montpellier; Médecine interne multi-organes (P.R., P.G.), Montpellier University Hospital, INSERM, Univ Montpellier; Department of Immunology (C.L., P.P., T.V.), Montpellier University Hospital, INSERM, Univ Montpellier; Internal Medicine Department (J.F.V.), Bordeaux University Hospital, Univ Bordeaux; Department of Neuroradiology (N.M.C.), Montpellier University Hospital, INSERM, Univ Montpellier; Université de Paris (F.R.-L., C.B.), Imagine institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris; and Laboratory of Molecular Genetics (M.K., C.G.), Montpellier University Hospital, INSERM, Univ Montpellier, France.

Objective: To describe the clinical and radiologic neurologic characteristics of patients with cytotoxic T-lymphocyte antigen-4 () haploinsufficiency.

Methods: Three patients from 2 families had neurologic manifestations in the context of haploinsufficiency. Their clinical and MRI findings are presented. Read More

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http://dx.doi.org/10.1212/NXI.0000000000000751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286662PMC

NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients.

EMBO J 2020 Jul 2;39(13):e104163. Epub 2020 Jun 2.

Université Côte d'Azur, CNRS, Inserm, iBV, Paris, France.

The relationships between impaired cortical development and consequent malformations in neurodevelopmental disorders, as well as the genes implicated in these processes, are not fully elucidated to date. In this study, we report six novel cases of patients affected by BBSOAS (Boonstra-Bosch-Schaff optic atrophy syndrome), a newly emerging rare neurodevelopmental disorder, caused by loss-of-function mutations of the transcriptional regulator NR2F1. Young patients with NR2F1 haploinsufficiency display mild to moderate intellectual disability and show reproducible polymicrogyria-like brain malformations in the parietal and occipital cortex. Read More

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http://dx.doi.org/10.15252/embj.2019104163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327499PMC

Vitamin D supplementation rescues simvastatin induced myopathy in mice via improving mitochondrial cristae shape.

Toxicol Appl Pharmacol 2020 May 30;401:115076. Epub 2020 May 30.

Department of Pharmacy, Beijing Chao-Yang Hospital, Capital Medical University, Beijing 100020, China. Electronic address:

Statin induced myopathy (SIM) is a main deleterious effect leading to the poor treatment compliance, while the preventive or therapeutic treatments are absent. Mounting evidences demonstrated that vitamin D plays a vital role in muscle as a direct modulator. The deficiency of vitamin D was considered as a cause of muscle dysfunction, whereas the supplementation resulted in a remission. Read More

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http://dx.doi.org/10.1016/j.taap.2020.115076DOI Listing
May 2020
3.705 Impact Factor

Use of augmented reality technology for improving visual acuity of individuals with low vision.

Indian J Ophthalmol 2020 Jun;68(6):1136-1142

Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India.

Purpose: The objective of this study was to analyze the visual acuity improvement in patients with low vision using augmented reality device who presented to the low vision care (LVC) clinic at a tertiary eye care center.

Methods: A prospective study of 100 patients with low vision who were referred to the LVC clinic between July and December 2018 was done. Demographic data and visual acuity improvement assessed using augmented reality (AR) technology paired with Samsung Gear headset were documented. Read More

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http://dx.doi.org/10.4103/ijo.IJO_1524_19DOI Listing

Orbital Fat Volume After Treatment with Topical Prostaglandin Agonists.

Invest Ophthalmol Vis Sci 2020 May;61(5):46

,.

Purpose: Topical prostaglandin analogs (PGAs) are common treatment for primary open-angle glaucoma (POAG) but reportedly may cause adnexal fat atrophy. We asked if patients with POAG treated with PGAs have abnormalities in orbital fat volume (OFV).

Methods: We studied 23 subjects with POAG who had never experienced intraocular pressure (IOP) exceeding 21 mm Hg and were treated long term with PGAs, in comparison with 21 age-matched controls. Read More

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http://dx.doi.org/10.1167/iovs.61.5.46DOI Listing

Optic Atrophy 1 Controls Human Neuronal Development by Preventing Aberrant Nuclear DNA Methylation.

iScience 2020 Jun 11;23(6):101154. Epub 2020 May 11.

Centre for Molecular Medicine Norway, Nordic EMBL Partnership, University of Oslo and Oslo University Hospital, 0318 Oslo, Norway; Department of Haematology, Oslo University Hospital, 0424 Oslo, Norway. Electronic address:

Optic atrophy 1 (OPA1), a GTPase at the inner mitochondrial membrane involved in regulating mitochondrial fusion, stability, and energy output, is known to be crucial for neural development: Opa1 heterozygous mice show abnormal brain development, and inactivating mutations in OPA1 are linked to human neurological disorders. Here, we used genetically modified human embryonic and patient-derived induced pluripotent stem cells and reveal that OPA1 haploinsufficiency leads to aberrant nuclear DNA methylation and significantly alters the transcriptional circuitry in neural progenitor cells (NPCs). For instance, expression of the forkhead box G1 transcription factor, which is needed for GABAergic neuronal development, is repressed in OPA1+/- NPCs. Read More

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http://dx.doi.org/10.1016/j.isci.2020.101154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251951PMC

Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.

Am J Med Genet A 2020 May 25. Epub 2020 May 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

The mitochondrial aconitase gene (ACO2) encodes an enzyme that catalyzes the conversion of citrate to isocitrate in the tricarboxylic acid cycle. Biallelic variants in ACO2 are purported to cause two distinct disorders: infantile cerebellar-retinal degeneration (ICRD) which is characterized by CNS abnormalities, neurodevelopmental phenotypes, optic atrophy and retinal degeneration; and optic atrophy 9 (OPA9), characterized by isolated ophthalmologic phenotypes including optic atrophy and low vision. However, some doubt remains as to whether biallelic ACO2 variants can cause isolated ophthalmologic phenotypes. Read More

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http://dx.doi.org/10.1002/ajmg.a.61634DOI Listing
May 2020
2.159 Impact Factor

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.

J Neuromuscul Dis 2020 ;7(3):301-308

Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.

Background: In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease.

Objective: In this report, we describe two independent consanguineous families carrying pathogenic variants in TACO1, confirming the phenotype.

Methods: Detailed clinical investigations and whole exome sequencing with haplotype analysis have been performed in several members of the two reported families. Read More

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http://dx.doi.org/10.3233/JND-200510DOI Listing
January 2020

Polypoidal choroidal vasculopathy as a complication of choroidal osteoma: A case report.

Medicine (Baltimore) 2020 May;99(20):e19927

Department of Ophthalmology, Yeungnam University College of Medicine, Daegu, South Korea.

Introduction: Choroidal osteoma (CO) is a rare benign tumor that particularly affects young, healthy women. Its prognosis is influenced by complications, such as choroidal neovascularization (CNV), subretinal hemorrhage, subretinal fluid (SF), decalcification status, and overlying retinal pigment epithelium (RPE) atrophy. In case of CNV as the complication of CO, it is typically present in the classic form; however, reports on polypoidal choroidal vasculopathy (PCV) have been rare. Read More

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http://dx.doi.org/10.1097/MD.0000000000019927DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253871PMC

Optic Neuropathy in Charcot-Marie-Tooth Disease.

J Neuroophthalmol 2020 Apr 16. Epub 2020 Apr 16.

Department of Neurology (AGH, JAW, RAA, SSS), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Translational Center of Excellence for Neuroepidemiology and Neurology Outcomes Research (AGH), University of Pennsylvania, Philadelphia, Pennsylvania; Center for Clinical Epidemiology and Biostatistics (AGH), University of Pennsylvania, Philadelphia, Pennsylvania; Department of Ophthalmology (RAA), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; and Division of Ophthalmology (RAA), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Background: Charcot-Marie-Tooth disease Type 2A (CMT2A) presents with optic atrophy in a subset of patients, but the prevalence and severity of optic nerve involvement in relation to other CMT subtypes has not been explored.

Methods: Patients with genetically confirmed CMT2A (n = 5), CMT1A (n = 9) and CMTX1 (n = 10) underwent high- and low-contrast acuity testing using Sloan letter charts, and circumpapillary retinal nerve fiber layer (RNFL) and macular total retinal, RNFL, and ganglion cell layer/inner plexiform layer thickness was measured using spectral domain optical coherence tomography (OCT). We used age- and gender-adjusted linear regression to compare contrast acuity and retinal thickness between CMT groups. Read More

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http://dx.doi.org/10.1097/WNO.0000000000000965DOI Listing

Effects of voluntary wheel running on mitochondrial content and dynamics in rat skeletal muscle.

J Muscle Res Cell Motil 2020 May 21. Epub 2020 May 21.

Department of Biochemistry and Genetics, La Trobe Institute for Molecular Science, La Trobe University, Melbourne, VIC, 3086, Australia.

This study reports that in rat skeletal muscle the proteins specifically responsible for mitochondrial dynamics, mitofusin-2 (MFN2) and mitochondrial dynamics protein 49 (MiD49), are higher (p < 0.05) in oxidative soleus (SOL) muscle compared with predominantly glycolytic extensor digitorum longus (EDL) muscle, but not seen for optic atrophy 1 (OPA1; p = 0.06). Read More

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http://dx.doi.org/10.1007/s10974-020-09580-9DOI Listing

Biotinidase Deficiency: Prevalence, Impact And Management Strategies.

Pediatric Health Med Ther 2020 4;11:127-133. Epub 2020 May 4.

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.

Biotinidase deficiency is an autosomal recessive inherited neurocutaneous disorder. Clinically untreated patients with BD can present with variable neurological and dermatological signs, such as seizures, hypotonia, feeding problems, developmental delay, hearing loss, optic atrophy ataxia, alopecia, and skin rash. Clinical findings of patients with partial BD reported in the literature show that it can occur from infancy to adulthood. Read More

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http://dx.doi.org/10.2147/PHMT.S198656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7211084PMC

Asymptomatic optic nerve lesions: An underestimated cause of silent retinal atrophy in MS.

Neurology 2020 Jun 20;94(23):e2468-e2478. Epub 2020 May 20.

From the Department of Neuroradiology, INSERM, U1171-Degenerative and Vascular Cognitive Disorders (J.-B.D., R.L., J.-P.P., X.L., O.O.), Department of Biostatistics, EA 2694-Santé Publique: Épidémiologie et Qualité des Soins (É.D., J.L.), and Department of Neurology, INSERM, U995-Lille Inflammation Research International Center (N.H., J.L., P.V., H.Z.), CHU Lille, Université de Lille, France.

Objective: To evaluate the frequency of asymptomatic optic nerve lesions and their role in the asymptomatic retinal neuroaxonal loss observed in multiple sclerosis (MS).

Methods: We included patients with remitting-relapsing MS in the VWIMS study (Analysis of Neurodegenerative Process Within Visual Ways In Multiple Sclerosis) (ClinicalTrials.gov Identifier: 03656055). Read More

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http://dx.doi.org/10.1212/WNL.0000000000009504DOI Listing

Microstructure abnormity in the optic nerve of type 1 diabetic rats revealed by diffusion tensor imaging study.

Magn Reson Imaging 2020 May 17;71:105-114. Epub 2020 May 17.

National Center for Magnetic Resonance in Wuhan, State Key Laboratory of Magnetic Resonance and Atomic and Molecular Physics, Wuhan Institute of Physics and Mathematics, Chinese Academy of Sciences, Wuhan 430071, China. Electronic address:

Diabetic retinopathy (DR) is one of a major complication of type 1 diabetes mellitus (T1DM) and a leading cause of blindness. Evidence of animal study has shown that it is not only a microvasucular lesion of the eye, but also a neurodegeneration disease of the visual system. However, the in vivo imaging evidence of axonal degeneration in the diabetic optic nerve is scarce. Read More

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http://dx.doi.org/10.1016/j.mri.2020.05.003DOI Listing

18F-FDG PET/CT in Sporadic Creutzfeldt-Jakob Disease.

Clin Nucl Med 2020 Jul;45(7):538-539

From the Nuclear Medicine Department, Institut Godinot, Reims.

We report the case of a 64-year-old man referred for optic ataxia, constructional apraxia, and spatial orientation disorders evolving for 2 months. Benson syndrome (posterior cortical atrophy) was initially suspected. Brain F-FDG PET/CT depicted an asymmetric decreased uptake pattern consistent with Creutzfeldt-Jakob disease. Read More

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http://dx.doi.org/10.1097/RLU.0000000000003059DOI Listing

Longitudinal Development of Peripapillary Hyper-Reflective Ovoid Masslike Structures Suggests a Novel Pathological Pathway in Multiple Sclerosis.

Ann Neurol 2020 May 19. Epub 2020 May 19.

Optometry and Visual Sciences, City, University of London, London, United Kingdom.

Objective: Peripapillary hyper-reflective ovoid masslike structures (PHOMS) are a new spectral domain optical coherence tomography (OCT) finding.

Methods: This prospective, longitudinal study included patients (n = 212) with multiple sclerosis (MS; n = 418 eyes), 59 healthy controls (HCs; n = 117 eyes), and 267 non-MS disease controls (534 eyes). OCT and diffusion tensor imaging were used. Read More

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http://dx.doi.org/10.1002/ana.25782DOI Listing

Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.

Neurogenetics 2020 May 18. Epub 2020 May 18.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.

Iron-sulfur cluster assembly 2 (ISCA2)-related multiple mitochondrial dysfunction syndrome 4 (MMDS4) is a fatal autosomal recessive mitochondrial leukoencephalopathy. The disease typically manifests with rapid neurodevelopmental deterioration during the first months of life leading to a vegetative state and early death. MRI demonstrates a demyelinating leukodystrophy. Read More

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http://dx.doi.org/10.1007/s10048-020-00611-8DOI Listing

A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity).

J Clin Lab Anal 2020 May 17:e23358. Epub 2020 May 17.

Molecular and Medicine Research Center, Arak University of Medical Sciences, Arak, Iran.

Background: Wolfram's syndrome (WFS) is a hereditary (autosomal recessive) neurodegenerative disorder. The clinical features are related to diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) with other variable clinical manifestations. Pathogenic variants in the WFS1 gene, encoding wolframin, are known to be the main cause of Wolfram's syndrome. Read More

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http://dx.doi.org/10.1002/jcla.23358DOI Listing
May 2020
1.144 Impact Factor

Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Mol Genet Genomic Med 2020 May 15:e1278. Epub 2020 May 15.

Department of Medicine (DAME), University of Udine, Udine, Italy.

Background: The Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant disorder (OMIM615722) mostly characterized by optic atrophy and/or hypoplasia, mild intellectual disability, hypotonia, seizures/infantile epilepsy. This disorder is caused by loss-of-function alterations of NR2F1 (i.e. Read More

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http://dx.doi.org/10.1002/mgg3.1278DOI Listing