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Optic nerve atrophy

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https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#1
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28820161/ocular-morbidity-patterns-among-children-in-schools-for-the-blind-in-chennai
#2
M Vs Prakash, S Sivakumar, Ashutosh Dayal, A Chitra, Sudharshini Subramaniam
PURPOSE: To identify the morbidity patterns causing blindness in children attending schools for the blind in Chennai and comparing our data with similar studies done previously. METHODS: A cross-sectional prevalence study was carried out in two schools for the blind in Chennai. Blind schools were visited by a team of ophthalmologists and optometrists. Students with best-corrected visual acuity (BCVA) worse than 3/60 in the better eye were included and relevant history was noted...
August 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28798362/a-large-family-with-inherited-optic-disc-anomalies-a-correlation-between-a-new-genetic-locus-and-complex-ocular-phenotypes
#3
Decai Wang, Xinyuan Pan, Jiangdong Ji, Shun Gu, Xiantao Sun, Chao Jiang, Weiyi Xia, Zhihua Qiu, Xiaoli Kang, Sijia Ding, Qinghuai Liu, Xue Chen, Fang Lu, Chen Zhao
Congenital cavitary optic disc anomalies (CODA) is clinically typified by an enlarged excavation of optic disc in diverse degrees. Here, we report the clinical and genetic findings in a four-generation Chinese family with a complicated form of autosomal dominant CODA. Cardinal manifestations included bilateral excavated optic disc with multiple cilioretinal vessels emerging and bilateral retinoschisis with great variability in the range of extension and severity. Other intra-familial phenotypic diversities were also noted, including severity in retinal atrophy, onset age of visual impairment and presence of congenital nystagmus and strabismus...
August 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28795959/zika-virus-and-the-eye
#4
Bruno de Paula Freitas, Camila V Ventura, Mauricio Maia, Rubens Belfort
PURPOSE OF REVIEW: The aim of this study was to review the ocular findings related to the Zika virus (ZIKV) based on the main studies published to date, describe the patterns of the lesions and risk factors, and identify the public health implications and scientific importance of this emerging disease. RECENT FINDINGS: In most studies, the ZIKV seems related to congenital ocular lesions and most mothers reported mild symptoms during the first pregnancy trimester...
August 8, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28768527/bilateral-blindness-secondary-to-optic-nerve-ischemia-from-severe-amlodipine-overdose-a-case-report
#5
Raymond Kao, Yves Landry, Genevieve Chick, Andrew Leung
BACKGROUND: Calcium channel blockers are commonly prescribed medications; calcium channel blocker overdose is becoming increasingly prevalent. The typical presentation of a calcium channel blocker overdose is hypotension and decreased level of consciousness. We describe a case of a calcium channel blocker overdose that led to bilateral cortical blindness, a presentation that has not previously been reported. CASE PRESENTATION: A 49-year-old white woman with known bilateral early optic atrophy presented to our hospital with hypotension and obtundation following a known ingestion of 150 mg of amlodipine...
August 3, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28755567/microcephaly-and-zika-virus-neuroradiological-aspects-clinical-findings-and-a-proposed-framework-for-early-evaluation-of-child-development
#6
Nelci Adriana Cicuto Ferreira Rocha, Ana Carolina de Campos, Fellipe Cicuto Ferreira Rocha, Fernanda Pereira Dos Santos Silva
BACKGROUND AND AIMS: As the recent outbreak of microcephaly cases caused by Zika virus has been declared a global health emergency, providing assessment guidelines for multidisciplinary teams providing early developmental screening and stimulation to infants with microcephaly is much needed. Thus, the aim of this manuscript is to provide an overview on what is known about neuroradiological aspects and clinical findings in infants with microcephaly caused by Zika virus and to propose a framework for early evaluation of child development...
July 26, 2017: Infant Behavior & Development
https://www.readbyqxmd.com/read/28755068/-intravitreal-methotrexate-for-treatment-of-uveitic-cystoid-macular-edema
#7
J Maaß, E Matthé
We present the case of a patient who had several intravitreal methotrexate injections due to a uveitic macular edema and a known steroid response. An earlier off-label therapy with avastin had not been successful. After the intravitreal methotrexate injections a good resorption of the retinal fluid as well as a good intraocular pressure and a good visual acuity could be achieved. Visual acuity was limited by pre-existing glaucomatous optic nerve atrophy and a central scar in the cornea.
July 28, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/28742160/sub-classification-of-myopic-glaucomatous-eyes-according-to-optic-disc-and-peripapillary-features
#8
Seungbong Han, Kyung Rim Sung, Jimin Park, Joo Young Yoon, Joong Won Shin
PURPOSE: To investigate the sub-classification of myopic glaucomatous eyes by optic disc and peripapillary features. METHODS: Optic disc tilt and torsion were determined from retinal nerve fiber layer photographs. Based on the location of the Bruch's membrane (BM) opening within the β-zone of the peripapillary atrophy (PPA) area, the widths of β-zone PPA (PPA1W), PPA+BM (PPA2W), and PPA-BM (PPA3W) were measured with enhanced depth imaging spectral-domain optical coherence tomography...
2017: PloS One
https://www.readbyqxmd.com/read/28739278/p38mapk-plays-a-critical-role-in-induction-of-a-pro-inflammatory-phenotype-of-retinal-m%C3%A3-ller-cells-following-zika-virus-infection
#9
Shuang Zhu, Huanle Luo, Hua Liu, Yonju Ha, Elizabeth R Mays, Ryan E Lawrence, Evandro Winkelmann, Alan D Barrett, Sylvia B Smith, Min Wang, Tian Wang, Wenbo Zhang
Zika virus (ZIKV) infection has been associated with ocular abnormalities such as chorioretinal atrophy, optic nerve abnormalities, posterior uveitis and idiopathic maculopathy. Yet our knowledge about ZIKV infection in retinal cells and its potential contribution to retinal pathology is still very limited. Here we found that primary Müller cells, the principal glial cells in the retina, expressed a high level of ZIKV entry cofactor AXL gene and were highly permissive to ZIKV infection. In addition, ZIKV-infected Müller cells exhibited a pro-inflammatory phenotype and produced many inflammatory and growth factors...
July 21, 2017: Antiviral Research
https://www.readbyqxmd.com/read/28716668/incomplete-penetrance-in-mitochondrial-optic-neuropathies
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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