11 results match your criteria neuro-ophthalmic phenotype

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Neuro-Ophthalmic Phenotype of OPA3.

J Neuroophthalmol 2021 Apr 14. Epub 2021 Apr 14.

Neuro-Ophthalmology Unit (RH-B), Goldschleger Eye Institute Chaim Sheba Medical Center, Tel-Hashomer, Israel; Department of Neurology (GY, SH-B), Sagol Neuroscience Center, Chaim Sheba Medical Center, Tel-Hashomer, Israel; Movement Disorders Clinic and Department of Neurology (GY), Shaare Zedek Medical Center, Jerusalem, Israel; Metabolic Disease Unit Edmond and Lily Safra Children's Hospital (YA), Chaim Sheba Medical Center, Tel-Hashomer, Israel; Pediatric Neurology Unit (BBZ), Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Tel-Hashomer, Israel; Radiology Department (CH), Chaim Sheba Medical Center, Tel-Hashomer, Israel; and Sackler Faculty of Medicine (RH-B, YA, BBZ, CH, SH-B), Tel-Aviv University, Tel-Aviv, Israel.

Background: Type III 3-methylglutaconic aciduria (OPA 3) is a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy. Since Costeff described the phenotype of 19 patients in 1989, several reports described approximately 50 patients, but most of them lack details about neuro-ophthalmic phenotype. Our aim was to characterize the clinical neuro-ophthalmic phenotype of this syndrome. Read More

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Preserved eye movements in adults with spinal muscular atrophy.

Muscle Nerve 2021 05 26;63(5):765-769. Epub 2021 Feb 26.

Department of Neurology, Eginition Hospital, University of Athens, Athens, Greece.

Introduction: Spinal muscular atrophy (SMA) most prominently affects proximal limb and bulbar muscles. Despite older case descriptions, ocular motor neuron palsies or other oculomotor abnormalities are not considered part of the phenotype.

Methods: We investigated oculomotor function by testing saccadic eye movements of 15 patients with SMA. Read More

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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 06 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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Collapsin Response-Mediator Protein 5-Associated Retinitis, Vitritis, and Optic Disc Edema.

Ophthalmology 2020 02 20;127(2):221-229. Epub 2019 Sep 20.

Department of Neurology, Mayo Clinic College of Medicine, Rochester, Minnesota; Department of Ophthalmology, Mayo Clinic College of Medicine, Rochester, Minnesota. Electronic address:

Purpose: Collapsin response-mediator protein 5 (CRMP5) immunoglobulin G (IgG) has been associated with paraneoplastic optic neuritis, vitritis, retinitis, or a combination thereof, but few reports of these findings exist in the literature. We reviewed the neuro-ophthalmic findings and visual outcomes in a large series of CRMP5 IgG-positive patients to characterize further its clinical phenotype and response to treatment.

Design: Retrospective case series. Read More

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February 2020

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.

Mitochondrion 2019 05 27;46:262-269. Epub 2018 Aug 27.

Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, USA. Electronic address:

Autosomal Dominant Optic Atrophy (ADOA) is a neuro-ophthalmic disease characterized by progressive bilateral vision loss, pallor of the optic disc, central vision loss, and impairment of color vision. Additionally, a small percentage of patients experience hearing loss and ataxia, while recent studies suggest disruption of cardiac and neuromuscular functions. In order to obtain a better understanding of the genotype-phenotype correlation of the various mutations in the optic atrophy 1 (OPA1) gene, we obtained both clinical and genetic information of ADOA patients from published reports. Read More

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Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.

Brain Dev 2016 May 10;38(5):498-506. Epub 2015 Dec 10.

Department of Neuropaediatrics, Timone Hospital, Marseille Teaching Hospital, France.

Introduction: The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2) with early onset. This gene is involved in typical CMT2A and in more atypical phenotypes as optic atrophy or spastic paraplegia. CMT2 refers to inherited axonal polyneuropathy, which associates progressive peripheral motor and sensory neuropathy, a family history consistent mainly with autosomal dominant inheritance, and normal nerve conduction velocities. Read More

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Mitochondrial dysfunction affecting visual pathways.

Rev Neurol (Paris) 2014 May 3;170(5):344-54. Epub 2014 May 3.

Service d'ophtalmologie, CHU d'Angers, 4, rue Larrey, 49100 Angers, France; UMR CNRS 6214, Inserm U1083, université d'Angers, rue Haute-de-Reculée, 49045 Angers, France; Singapore national eye centre, Singapore eye research institute and Duke-NUS, 11, Third Hospital Ave, 168751 Singapore, Singapore.

Mitochondrial dysfunction leads to cellular energetic impairment, which may affect the visual pathways, from the retina to retrochiasmal structures. The most common mitochondrial optic neuropathies include Leber's hereditary optic neuropathy and autosomal dominant optic atrophy, but the optic nerve can be affected in other syndromic conditions, such as Wolfram syndrome and Friedreich's ataxia. These disorders may result from mutations in either the mitochondrial DNA or in the nuclear genes encoding mitochondrial proteins. Read More

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Selective retinal ganglion cell loss in familial dysautonomia.

J Neurol 2014 Apr 2;261(4):702-9. Epub 2014 Feb 2.

Dysautonomia Center, Langone Medical Center, New York University, New York, USA,

To define the retinal phenotype of subjects with familial dysautonomia (FD). A cross-sectional study was carried out in 90 subjects divided in three groups of 30 each (FD subjects, asymptomatic carriers and controls). The study was developed at the Dysautonomia Center, New York University Medical Center. Read More

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Neuro-ophthalmology of von Hippel-Lindau.

Curr Neurol Neurosci Rep 2004 Sep;4(5):384-90

Department of Ophthalmology, University of Virginia, Box 800715, Charlottesville, VA 22908, USA.

von Hippel-Lindau (VHL) disease is a multisystem inherited cancer syndrome with characteristic tumors and a known genetic basis. Patients with VHL develop, among other tumors, retinal capillary hemangiomas, central nervous system hemangioblastomas, renal clear cell carcinomas, and pheochromocytomas. Nearly all patients can be shown to have a mutation in the VHL gene, which is located on chromosome 3p25. Read More

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September 2004

Prospective study of HTLV-I infection in an initially asymptomatic cohort.

J Acquir Immune Defic Syndr 1999 Sep;22(1):92-100

Clinical Trials Centre, Imperial College School of Medicine, St. Mary's Hospital, London, UK.

A prospective clinical study of 20 initially asymptomatic HTLV-I-seropositive carriers was commenced in 1991 to determine the natural history of the infection in relation to HTLV-I proviral load, immune responses, and lymphocyte phenotype. Proviral load varied widely between carriers but was relatively constant within an individual over time. The lymphocyte phenotype and prevalence of activated lymphocytes were not predictive of disease and the magnitude of the cytotoxic T-lymphocyte response to HTLV-I was independent of proviral load. Read More

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September 1999

Phenotypic variability in monozygotic twins with neurofibromatosis 2.

Am J Med Genet 1996 Sep;64(4):563-7

Division of Neurology, Cedars-Sinai Medical Center, UCLA School of Medicine, USA.

Mutations in the neurofibromatosis 2 (NF2) tumor suppressor gene on chromosome 22q12 cause a clinically variable autosomal dominant syndrome characterized by bilateral vestibular schwannomas (VSs), other nervous system tumors, and early onset lenticular cataracts. We studied three pairs of monozygotic (MZ) twins with NF2, all with bilateral VSs, to separate genetic from nongenetic causes of clinical variability. The evaluation included gadolinium-enhanced high-resolution magnetic resonance imaging of the head and spine, neuro-ophthalmic examination with slit lamp, physical examination, and zygosity testing with microsatellite markers. Read More

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September 1996
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