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Optic nerve atrophy

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https://www.readbyqxmd.com/read/28716668/incomplete-penetrance-in-mitochondrial-optic-neuropathies
#1
Leonardo Caporali, Alessandra Maresca, Mariantonietta Capristo, Valentina Del Dotto, Francesca Tagliavini, Maria Lucia Valentino, Chiara La Morgia, Valerio Carelli
Incomplete penetrance characterizes the two most frequent inherited optic neuropathies, Leber's Hereditary Optic Neuropathy (LHON) and dominant optic atrophy (DOA), due to genetic errors in the mitochondrial DNA (mtDNA) and the nuclear DNA (nDNA), respectively. For LHON, compelling evidence has accumulated on the complex interplay of mtDNA haplogroups and environmental interacting factors, whereas the nDNA remains essentially non informative. However, a compensatory mechanism of activated mitochondrial biogenesis and increased mtDNA copy number, possibly driven by a permissive nDNA background, is documented in LHON; when successful it maintains unaffected the mutation carriers, but in some individuals it might be hampered by tobacco smoking or other environmental factors, resulting in disease onset...
July 14, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28700390/bartonella-henselae-neuroretinitis-associated-with-central-retinal-vein-occlusion-choroidal-ischemia-and-ischemic-optic-neuropathy
#2
Quraish Ghadiali, Larissa K Ghadiali, Lawrence A Yannuzzi
PURPOSE: We describe a healthy 37-year-old man with Bartonella henselae (B. henselae) neuroretinitis with concurrent central retinal vein occlusion and ischemic optic neuropathy resulting in optic atrophy and choroidal ischemia. METHODS: Case report. RESULTS: A 37-year-old man presented with unilateral decreased vision and a fundus examination consistent with neuroretinitis. Further imaging review supported a concurrent diagnosis of central retinal vein occlusion...
July 11, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28680463/diagnosis-and-treatment-of-herpes-simplex-1-virus-infection-in-pregnancy
#3
REVIEW
Rachel Lee, Manju Nair
A nulliparous woman presented at 21 weeks' gestation with a 72-h history of a rash on her left arm. Initially isolated to the forearm, it had quickly spread, becoming multiple itchy fluid-filled blisters. Blood tests showed mild neutrophilia and raised CRP. Skin swabs demonstrated the presence of herpes simplex virus type 1 (HSV1) DNA. There was no history of previous HSV1 exposure. There is scant literature on uncomplicated cutaneous HSV1 since the majority is oral/genital. The incidence of transmission varies and is dependent on site of infection and immunological status...
June 2017: Obstetric Medicine
https://www.readbyqxmd.com/read/28669275/early-retinal-atrophy-predicts-long-term-visual-impairment-after-acute-optic-neuritis
#4
Bernardo Sanchez-Dalmau, Elena H Martinez-Lapiscina, Ruben Torres-Torres, Santiago Ortiz-Perez, Irati Zubizarreta, Irene V Pulido-Valdeolivas, Salut Alba-Arbalat, Ana Guerrero-Zamora, David Calbet, Pablo Villoslada
BACKGROUND: Visual recovery after optic neuritis (ON) used to be defined as good, although patients frequently complain of poor vision. METHODS: We carried out a prospective study on 38 consecutive patients with acute ON followed monthly for 6 months and evaluated high- and low-contrast visual acuity (HCVA and LCVA, respectively), quality of vision (National Eye Institute Visual Function Questionnaire-25 (NEI-VFQ-25)), visual fields, and retinal thickness by spectral domain optical coherence tomography (OCT)...
June 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28668999/heterozygous-deletion-of-the-opa1-gene-in-patients-with-dominant-optic-atrophy
#5
Takaaki Hayashi, Hiroyuki Sasano, Satoshi Katagiri, Kazushige Tsunoda, Shuhei Kameya, Mitsuru Nakazawa, Takeshi Iwata, Hiroshi Tsuneoka
PURPOSE: Several OPA1 variants cause dominant optic atrophy (DOA), the most common hereditary optic atrophy. Here, we describe a newly discovered OPA1 deletion in 3 patients with DOA. METHODS: A female proband, her brother, and her mother underwent complete ophthalmologic examinations that included optical coherence tomography and visual field assessments using a Humphrey Field Analyzer with both standard automated perimetry (SAP) and short-wavelength automated perimetry (SWAP)...
July 1, 2017: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28661562/predictors-of-visual-outcome-in-patients-operated-for-craniopharyngioma-a-danish-national-study
#6
Mads Forslund Jacobsen, Ann Sofia Skou Thomsen, Daniella Bach-Holm, Ghazaleh Doroudian, Kamilla Rothe Nissen, Kåre Fugleholm, Lars Poulsgaard, Volkert Siersma, Steffen Heegaard
PURPOSE: Craniopharyngioma often causes visual loss due to the close relation to the anterior visual pathways. This study investigates the incidence and predictors of visual outcomes in patients with craniopharyngioma. METHODS: Data from sixty-six patients who underwent surgery for craniopharyngioma from 2009 to 2013 in Denmark were reviewed. Primary outcomes were visual acuity (VA) and visual field (VF) defects from pre-and postoperative visits. Secondary outcomes were optic nerve atrophy (OA) and papilledema...
June 29, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28652416/mitochondrial-membrane-dynamics-and-inherited-optic-neuropathies
#7
REVIEW
Eleni Bagli, Anastasia K Zikou, Niki Agnantis, Georgios Kitsos
Inherited optic neuropathies are a genetically diverse group of disorders mainly characterized by visual loss and optic atrophy. Since the first recognition of Leber's hereditary optic neuropathy, several genetic defects altering primary mitochondrial respiration have been proposed to contribute to the development of syndromic and non-syndromic optic neuropathies. Moreover, the genomics and imaging revolution in the past decade has increased diagnostic efficiency and accuracy, allowing recognition of a link between mitochondrial dynamics machinery and a broad range of inherited neurodegenerative diseases involving the optic nerve...
July 2017: In Vivo
https://www.readbyqxmd.com/read/28652051/the-visual-system-in-infants-with-microcephaly-related-to-presumed-congenital-zika-syndrome
#8
Islane Verçosa, Paula Carneiro, Reno Verçosa, Renata Girão, Erlane M Ribeiro, Andre Pessoa, Nadia G Almeida, Paloma Verçosa, Marcia B Tartarella
PURPOSE: To describe and analyze ocular features in infants with microcephaly due to presumed congenital Zika syndrome. METHODS: Ophthalmologic evaluation, including indirect ophthalmoscopy and eye fundus imaging, visual acuity testing with Teller Acuity Cards, and strabismus assessment were performed in infants with microcephaly at a nongovernmental organization clinic for visually disabled children. RESULTS: A total of 70 infants with microcephaly were referred to the clinic...
June 23, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28639452/-magnetic-resonance-strength-of-1-5-t-possibilities-detailed-view-of-the-optic-nerve
#9
P Hanzlíková, J Chmelová
Due to the increased availability of MRI, this modality is the first choice for patients with a suspected pathology of the optic nerve, chiasm and optic tracts. Magnetic resonance imaging allows to evaluate the optic nerve itself as well as the gain or atrophy, its focal changes; it also allows detailed views of the surrounding structures such as vagina of the optic nerve and the mutual ratio between the full thickness of the nerve and the vagina, and the nerve itself. MR method uses a tissue contrast of an adipose tissue structures to a detailed imaging of the orbit...
2017: Ceská a Slovenská Oftalmologie
https://www.readbyqxmd.com/read/28638259/global-alert-zika-virus-an-emerging-arbovirus
#10
REVIEW
Zulal Ozkurt, Esra Cinar Tanriverdi
Zika virus (ZIKV) is an arbovirus of the Flavivirus genus, and it has an envelope and a single RNA molecule. In early 2016, the World Health Organization declared ZIKV infection to be an emerging global health threat. The major transmission route of the virus to humans is Aedes mosquitoes. ZIKV can be transmitted between humans by transplacental, perinatal, and sexual routes and via blood and body fluids. ZIKV infection usually results in a mild and self-limiting disease with low-grade fever, conjunctivitis, and periorbital edema...
June 2017: Eurasian Journal of Medicine
https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#11
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28626415/a-case-of-childhood-onset-giant-cell-tumor-that-caused-optic-nerve-atrophy-in-both-eyes
#12
Masahiro Tonari, Junko Matsuo, Hidehiro Oku, Jun Sugasawa, Tsunehiko Ikeda, Kazunori Tatsuzawa, Tomoaki Fujita
PURPOSE: The purpose of this study was to report the case of a female patient who had a giant cell tumor in the paranasal sinus during childhood, and while undergoing multiple resection surgeries experienced optic atrophy in both eyes. CASE PRESENTATION: This study involved a 35-year-old woman who was previously diagnosed with a giant cell tumor of the paranasal sinus bone at age 13. A CT scan revealed a large tumor extending from the sphenoid sinus to the ethmoid sinus...
May 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28596752/the-retina-in-multiple-system-atrophy-systematic-review-and-meta-analysis
#13
REVIEW
Carlos E Mendoza-Santiesteban, Iñigo Gabilondo, Jose Alberto Palma, Lucy Norcliffe-Kaufmann, Horacio Kaufmann
BACKGROUND: Multiple system atrophy (MSA) is a rare, adult-onset, rapidly progressive fatal synucleinopathy that primarily affects oligodendroglial cells in the brain. Patients with MSA only rarely have visual complaints, but recent studies of the retina using optical coherence tomography (OCT) showed atrophy of the peripapillary retinal nerve fiber layer (RNFL) and to a lesser extent the macular ganglion cell layer (GCL) complex. METHODS: We performed a literature review and meta-analysis according to the preferred reporting items for systematic reviews and meta-analyses guidelines for studies published before January 2017, identified through PubMed and Google Scholar databases, which reported OCT-related outcomes in patients with MSA and controls...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28594428/compromised-integrity-of-central-visual-pathways-in-patients-with-macular-degeneration
#14
Maka Malania, Julia Konrad, Herbert Jägle, John S Werner, Mark W Greenlee
Purpose: Macular degeneration (MD) affects the central retina and leads to gradual loss of foveal vision. Although, photoreceptors are primarily affected in MD, the retinal nerve fiber layer (RNFL) and central visual pathways may also be altered subsequent to photoreceptor degeneration. Here we investigate whether retinal damage caused by MD alters microstructural properties of visual pathways using diffusion-weighted magnetic resonance imaging. Methods: Six MD patients and six healthy control subjects participated in the study...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28584914/optical-coherence-tomography-for-the-diagnosis-and-monitoring-of-idiopathic-intracranial-hypertension
#15
Philipp Albrecht, Christine Blasberg, Marius Ringelstein, Ann-Kristin Müller, David Finis, Rainer Guthoff, Ella-Maria Kadas, Wolf Lagreze, Orhan Aktas, Hans-Peter Hartung, Friedemann Paul, Alexander U Brandt, Axel Methner
The objectives of the study were to investigate the value of optical coherence tomography in detecting papilledema in patients with idiopathic intracranial hypertension (IIH), a disease which is difficult to monitor and which can lead to permanent visual deficits; to analyze retinal changes over time. In this non-interventional case-control study, spectral-domain optical coherence tomography (SD-OCT) was used to analyze the retinal and optic nerve head (ONH) morphology of 21 patients with IIH and 27 age- and sex-matched healthy controls over time...
July 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28575651/mutations-in-nkx6-2-cause-progressive-spastic-ataxia-and-hypomyelination
#16
Viorica Chelban, Nisha Patel, Jana Vandrovcova, M Natalia Zanetti, David S Lynch, Mina Ryten, Juan A Botía, Oscar Bello, Eloise Tribollet, Stephanie Efthymiou, Indran Davagnanam, Fahad A Bashiri, Nicholas W Wood, James E Rothman, Fowzan S Alkuraya, Henry Houlden
Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders that are classified either as pure spastic ataxia or as complex spastic ataxia with additional neurological signs. Inheritance is either autosomal dominant or autosomal recessive. Hypomyelinating features on MRI are sometimes seen with spastic ataxia, but this is usually mild in adults and severe and life limiting in children. We report seven individuals with an early-onset spastic-ataxia phenotype...
June 1, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28561632/-traumatic-asphyxia-with-permanent-visual-loss-case-report
#17
Tibor Kántor, Bianca Grigorescu, Gabriel Popescu, Attila Ferencz, Örs Nagy, János Jung, István Gergely
Traumatic asphyxia is a rare condition that occurs after compressive thoracoabdominal trauma, which is characterized by subconjunctival hemorrhage, cervicofacial cyanosis, edema and petechiae. Serious life-threatening thoracic and abdominal injuries may coexist. After conservatory treatment in most cases complete recovery is achieved, but in isolated cases permanent neurological lesions may occur. We present the case of the 39-year-old male patient who suffered a compressive thoracoabdominal trauma. The physical examination showed the characteristic "ecchymotic mask"...
June 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28557580/assessment-of-optic-nerve-head-pallor-in-primary-open-angle-glaucoma-patients-and-healthy-subjects
#18
Lisa Ramm, Birte Schwab, Richard Stodtmeister, Martin Hammer, Lydia Sauer, Eberhard Spörl, Lutz E Pillunat, Naim Terai
PURPOSE: To investigate optic nerve head (ONH) pallor quantitatively in patients with primary open-angle glaucoma (POAG) and in healthy subjects, and to examine the relationship to mean deviation in perimetry (MD), cup-disk ratio (CDR), and diameters of retinal vessels. METHODS: A total of 89 POAG patients (67.6 ± 11.1 years) and 48 healthy subjects (63.3 ± 14 years) were included. A dual-bandpass transmission filter was introduced in the illumination path of the fundus camera of the Dynamic Vessel Analyzer (Imedos Systems UG) and two monochromatic images at different wavelenghts (548 ± 10 and 610 ± 10 nm) were recorded simultaneously...
May 30, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28557535/peripapillary-atrophy-in-high-myopia
#19
Weifeng Liu, Liping Gong, Yingjie Li, Xuan Zhu, Jay M Stewart, Changyun Wang
PURPOSE: To evaluate peripapillary atrophy (PPA) in high myopia (HM) as a function of extent of myopia, axial length (AL), and age. METHODS: Medical records from patients (n = 88) seen in the Ophthalmology Department of the Third Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China, and diagnosed with high myopia (HM)-defined as spherical equivalent (SE) of >6.00 diopters (D) of myopia in either eye-were included in this study. Eyes were classified according to SE and age...
May 30, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28555457/-situs-inversus-of-the-optic-nerve-a-case-report
#20
I Lopez-Cuenca, R de Hoz, E Salobrar-Garcia, B Rojas, A I Ramirez, J J Salazar, A Trivino, J M Ramirez
INTRODUCTION: Situs inversus of the optic nerve is a congenital anomaly characterised by the emergence of the vessels in the retina towards the nose rather than in a temporal direction. It is caused by an anomalous insertion of the optic stalks into the optic vesicle that gives rise to dysversion of the head of the optic nerve. It is not an isolated condition and usually appears jointly with tilted disc syndrome and in patients with myopia. It is characterised by the presence of inferior conus atrophy, deficiencies in the temporal visual field, refraction defects and ambliopy...
June 1, 2017: Revista de Neurologia
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