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Ocular dominance

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https://www.readbyqxmd.com/read/28932485/incontinentia-pigmenti-in-a-child-with-suspected-retinoblastoma
#1
Stephanie J Weiss, Archana Srinivasan, Michael A Klufas, Carol L Shields
BACKGROUND: Incontinentia pigmenti is a rare X-linked dominant syndrome caused by mutation in the NEMO/IKKgamma gene, and characterized by a spectrum of cutaneous, ocular, neurologic and dental abnormalities. In the eye, findings include retinal vascular non-perfusion, occasionally with traction retinal detachment, retinal fibrosis, and retinal pigment epithelium defects. These findings can resemble retinoblastoma, especially when vitreoretinal fibrosis produces leukocoria. CASE REPORT: A 2-month-old girl born full-term presented with leukocoria, suspicious for retinoblastoma...
2017: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/28918081/developmental-alcohol-exposure-impairs-synaptic-plasticity-without-overtly-altering-microglial-function-in-mouse-visual-cortex
#2
Elissa L Wong, Nina M Lutz, Victoria A Hogan, Cassandra E Lamantia, Helene R McMurray, Jason R Myers, John M Ashton, Ania K Majewska
Fetal alcohol spectrum disorder (FASD), caused by gestational ethanol (EtOH) exposure, is one of the most common causes of non-heritable and life-long mental disability worldwide, with no standard treatment or therapy available. While EtOH exposure can alter the function of both neurons and glia, it is still unclear how EtOH influences brain development to cause deficits in sensory and cognitive processing later in life. Microglia play an important role in shaping synaptic function and plasticity during neural circuit development and have been shown to mount an acute immunological response to EtOH exposure in certain brain regions...
September 13, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28911203/mutations-of-conserved-non-coding-elements-of-pitx2-in-patients-with-ocular-dysgenesis-and-developmental-glaucoma
#3
Meredith E Protas, Eric Weh, Tim Footz, Jay Kasberger, Scott C Baraban, Alex V Levin, L Jay Katz, Robert Ritch, Michael A Walter, Elena V Semina, Douglas B Gould
Mutations in FOXC1 and PITX2 constitute the most common causes of ocular anterior segment dysgenesis (ASD), and confer a high risk for secondary glaucoma. The genetic causes underlying ASD in approximately half of patients remain unknown, despite many of them being screened by whole exome sequencing. Here, we performed whole genome sequencing on DNA from two affected individuals from a family with dominantly inherited ASD and glaucoma to identify a 748-kb deletion in a gene desert that contains conserved putative PITX2 regulatory elements...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28905836/rare-ocular-manifestations-in-keratosis-follicularis-darier-white-disease
#4
Savitha H Kanakpur, Divya Upendra Caculo
Keratosis follicularis (Darier's disease) is a rare (1 in 30,000-100,000) genetic autosomal-dominant predominantly dermatological disorder characterized by hyperkeratosis and acantholysis due to a defective calcium transport in the cells. Ocular findings, if present, are very rare in this condition. Here, we are reporting a case of keratosis follicularis (Darier's disease) with ocular manifestations that have not been reported so far to the best of our knowledge.
September 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28900607/de-novo-intraocular-amyloid-deposition-after-hepatic-transplantation-in-familial-amyloidotic-polyneuropathy
#5
Ivo Filipe Gama, Leonor Duarte Almeida
The familiar amyloid polyneuropathy (FAP) is a rare autosomal-dominant systemic amyloidosis. Amyloid deposition occurs more frequently and extensively in the vitq. The increase in intraocular pressure (IOP) is a result of deposition of transthyretin (TTR) in trabecular meshwork. Rarely, the amyloid deposition in anterior segment can be more exuberant than in posterior segment. A 42 years old man, with FAP (Val30Met mutation), liver transplantation in 1997. He was asymptomatic, without any significant ocular abnormality until 2011...
August 24, 2017: World Journal of Transplantation
https://www.readbyqxmd.com/read/28899917/activity-dependent-dysfunction-in-visual-and-olfactory-sensory-systems-in-mouse-models-of-down-syndrome
#6
Christopher M William, Lubna Saqran, Matthew A Stern, Charles L Chiang, Scott Herrick, Aziz Rangwala, Mark W Albers, Matthew P Frosch, Bradley T Hyman
Activity-dependent synaptic plasticity plays a critical role in the refinement of circuitry during postnatal development and may be disrupted in conditions that cause intellectual disability such as Down syndrome (DS). To test this hypothesis, visual cortical plasticity was assessed in Ts65Dn mice that harbor a chromosomal duplication syntenic to human chromosome 21q. We find that Ts65Dn mice demonstrate a defect in ocular dominance plasticity (ODP) following monocular deprivation. This phenotype is similar to that of transgenic mice that express amyloid precursor protein (APP), which is duplicated in DS and in Ts65DN mice; however, normalizing APP gene copy number in Ts65Dn mice fails to rescue plasticity...
September 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28893104/ripasudil-hydrochloride-hydrate-targeting-rho-kinase-in-the-treatment-of-glaucoma
#7
Toshihiro Inoue, Hidenobu Tanihara
Among the intraocular pressure (IOP)-lowering drugs used in a clinical setting, Rho kinase (ROCK) inhibitors lower IOP by a unique mechanism, namely the depolymerization of intracellular actin in the conventional outflow tissues: the trabecular meshwork (TM) and Schlemm's canal (SC). Furthermore, ROCK inhibitors suppress the production of extracellular matrix by TM cells, which represents a potential alternative method of lowering IOP. Considering that conventional outflow is a dominant pathway in humans, IOP-lowering ROCK inhibitors, delivered in conjunction with other drugs, may be able to treat the glaucomatous eye...
September 12, 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28882632/spatial-specificity-of-the-functional-mri-blood-oxygenation-response-relative-to-neuronal-activity
#8
Denis Chaimow, Essa Yacoub, Kâmil Uğurbil, Amir Shmuel
Previous attempts at characterizing the spatial specificity of the blood oxygenation level dependent functional MRI (BOLD fMRI) response by estimating its point-spread function (PSF) have conventionally relied on spatial representations of visual stimuli in area V1. Consequently, their estimates were confounded by the width and scatter of receptive fields of V1 neurons. Here, we circumvent these limits by instead using the inherent cortical spatial organization of ocular dominance columns (ODCs) to determine the PSF for both Gradient Echo (GE) and Spin Echo (SE) BOLD imaging at 7 T...
September 4, 2017: NeuroImage
https://www.readbyqxmd.com/read/28877251/identification-of-a-novel-gja3-mutation-in-a-large-chinese-family-with-congenital-cataract-using-targeted-exome-sequencing
#9
Yihua Yao, Xuedong Zheng, Xianglian Ge, Yanghui Xiu, Liu Zhang, Weifang Fang, Junzhao Zhao, Feng Gu, Yihua Zhu
Autosomal dominant congenital cataract (ADCC) is a clinically and genetically heterogeneous ocular disease in children that results in serious visual impairments or even blindness. Targeted exome sequencing (TES) is an efficient method used for genetic diagnoses of inherited diseases. In the present study, we used a custom-made TES panel to identify the genetic defect of a four-generation Chinese family with bilateral pulverulent nuclear cataracts. A novel heterozygous missense mutation c.443C>T (p. T148I) in GJA3 was identified...
2017: PloS One
https://www.readbyqxmd.com/read/28875930/light-reintroduction-after-dark-exposure-reactivates-plasticity-in-adults-via-perisynaptic-activation-of-mmp-9
#10
Sachiko Murase, Crystal Lantz, Elizabeth Quinlan
The sensitivity of ocular dominance to regulation by monocular deprivation is the canonical model of plasticity confined to a critical period. However, we have previously shown that visual deprivation through dark exposure (DE) reactivates critical period plasticity in adults. Previous work assumed that the elimination of visual input was sufficient to enhance plasticity in the adult mouse visual cortex. In contrast, here we show that light reintroduction (LRx) after DE is responsible for the reactivation of plasticity...
September 6, 2017: ELife
https://www.readbyqxmd.com/read/28864840/renal-auricular-and-ocular-outcomes-of-alport-syndrome-and-their-current-management
#11
Yanqin Zhang, Jie Ding
Alport syndrome is a hereditary glomerular basement membrane disease caused by mutations in the COL4A3/4/5 genes encoding the type IV collagen alpha 3-5 chains. Most cases of Alport syndrome are inherited as X-linked dominant, and some as autosomal recessive or autosomal dominant. The primary manifestations are hematuria, proteinuria, and progressive renal failure, whereas some patients present with sensorineural hearing loss and ocular abnormalities. Renin-angiotensin-aldosterone system blockade is proven to delay the onset of renal failure by reducing proteinuria...
September 1, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28846773/racioethnic-differences-in-human-posterior-scleral-and-optic-nerve-stump-deformation
#12
COMPARATIVE STUDY
Ehab A Tamimi, Jeffrey D Pyne, Dominic K Muli, Katelyn F Axman, Stephen J Howerton, Matthew R Davis, Christopher A Girkin, Jonathan P Vande Geest
Purpose: The purpose of this study was to quantify the biomechanical response of human posterior ocular tissues from donors of various racioethnic groups to better understand how differences in these properties may play a role in the racioethnic health disparities known to exist in glaucoma. Methods: Sequential digital image correlation (S-DIC) was used to measure the pressure-induced surface deformations of 23 normal human posterior poles from three racioethnic groups: African descent (AD), European descent (ED), and Hispanic ethnicity (HIS)...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28830451/bacterial-pathogens-associated-with-external-ocular-infections-alongside-eminent-proportion-of-multidrug-resistant-isolates-at-the-university-of-gondar-hospital-northwest-ethiopia
#13
Ergibnesh Getahun, Baye Gelaw, Abate Assefa, Yared Assefa, Anteneh Amsalu
BACKGROUND: External ocular infection is a public health problem in Ethiopia. The aim of this study was to determine the prevalence and antimicrobial susceptibility pattern of external ocular bacterial infections. METHODS: A cross sectional study was conducted at the University of Gondar Hospital among patients seeking health services at the Department of Ophthalmology from January to April, 2016. All patients with suspected external ocular infections were examined under slit lamp microscope...
August 22, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28829391/a-rare-form-of-retinal-dystrophy-caused-by-hypomorphic-nonsense-mutations-in-cep290
#14
Susanne Roosing, Frans P M Cremers, Frans C C Riemslag, Marijke N Zonneveld-Vrieling, Herman E Talsma, Francoise J M Klessens-Godfroy, Anneke I den Hollander, L Ingeborgh van den Born
PURPOSE: To identify the gene defect and to study the clinical characteristics and natural course of disease in a family originally diagnosed with oligocone trichromacy (OT), a rare congenital cone dysfunction syndrome. METHODS: Extensive clinical and ophthalmologic assessment was performed on two siblings with OT and long-term follow up data were analyzed. Subsequently, whole exome sequencing (WES) and Sanger sequence analysis of CEP290 was performed in the two siblings...
August 22, 2017: Genes
https://www.readbyqxmd.com/read/28829109/adult-orbital-and-adnexal-xanthogranulomatous-disease
#15
Michael J Davies, Kevin Whitehead, Gary Quagliotto, Dominic Wood, Rajan S Patheja, Timothy J Sullivan
PURPOSE: Adult xanthogranulomatous disease of the orbit and ocular adnexa is a rare disease that can cause serious morbidity and mortality. Ophthalmologists are commonly the first clinicians to come in contact with affected patients and an understanding of the clinical features is essential. DESIGN: We present a retrospective case series of patients seen in the oculoplastic unit of a large tertiary referral hospital over a 20-year period. METHODS: The clinical files of 7 patients with adult xanthogranulomatous disease of the orbit and ocular adnexa were reviewed...
August 22, 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28823004/the-influence-of-ocular-sighting-dominance-on-fundus-torsion-in-patients-with-unilateral-congenital-superior-oblique-palsy
#16
Dae Hee Kim, Hyuna Kim, Hyun Taek Lim
PURPOSE: The purpose of our study was to determine whether ocular sighting dominance may influence the ocular torsion in patients with unilateral congenital superior oblique palsy (UCSOP). METHODS: This retrospective study included 22 UCSOP patients with radiologic evidence of unilateral superior oblique muscle hypoplasia on orbital magnetic resonance imaging and 66 healthy individuals with normal ocular motility as controls. Ocular torsion was assessed both quantitatively and qualitatively using digital fundus photography...
August 19, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28816964/the-rare-axenfeld-rieger-syndrome-with-systemic-anomalies-a-case-report-and-brief-review-of-literature
#17
Wei Song, Xiaodan Hu
RATIONALE: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS: A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. DIAGNOSES: The patient was diagnosed as ARS with retinal detachment based on series of ophthalmic examinations performed. INTERVENTIONS: A pars plana vitrectomy was performed to manage the retinal detachment...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28813435/chronic-imaging-through-transparent-skull-in-mice
#18
Anna Steinzeig, Dmitry Molotkov, Eero Castrén
Growing interest in long-term visualization of cortical structure and function requires methods that allow observation of an intact cortex in longitudinal imaging studies. Here we describe a detailed protocol for the "transparent skull" (TS) preparation based on skull clearing with cyanoacrylate, which is applicable for long-term imaging through the intact skull in mice. We characterized the properties of the TS in imaging of intrinsic optical signals and compared them with the more conventional cranial window preparation...
2017: PloS One
https://www.readbyqxmd.com/read/28810563/dystrophia-myotonica-type-1-presenting-with-dysarthria-a-case-report-and-literature-review
#19
Chunrong Li, Xiaoling Zhang, Chunkui Zhou, Lijun Zhu, Kangding Liu, Shaokuan Fang
Dystrophia myotonica (DM) type 1 is an autosomal dominant disorder, caused by a trinucleotide CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene (chromosome 19q13.3). The disorder affects different organ systems, including the skeletal muscles, ocular lens, lungs, heart and gastrointestinal tract, as well as the endocrine and central nervous systems. The skeletal muscles are most frequently involved, whereby the disorder manifests as myotonia, muscle weakness and amyotrophy...
August 2017: Experimental and Therapeutic Medicine
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
#20
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
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