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Retinitis pigmentosa

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https://www.readbyqxmd.com/read/28812413/unusual-retinopathy-in-a-child-with-severe-combined-immune-deficiency
#1
Christina Gerth-Kahlert, Amit Tiwari, Mathias M Hauri-Hohl, James V M Hanson, Angela Bahr, Anja Palmowski-Wolfe, Tayfun Güngör, Wolfgang Berger
We describe a case of an infant diagnosed with severe combined immune deficiency (Adenosine Deaminase (ADA), SCID) with severe retinopathy and associated low vision in both eyes at first examination. An extensive infectious work up revealed an enterovirus infection, which suggested an early infectious and severe retinopathy. Genetic causes of congenital retinitis pigmentosa/ Leber's congenital amaurosis could be excluded by whole exome sequencing.
August 16, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28810002/retinal-oximetry-discovers-novel-biomarkers-in-retinal-and-brain-diseases
#2
Einar Stefánsson, Olof Birna Olafsdottir, Anna Bryndis Einarsdottir, Thorunn Scheving Eliasdottir, Thor Eysteinsson, Wouter Vehmeijer, Evelien Vandewalle, Toke Bek, Sveinn Hakon Hardarson
Purpose: Biomarkers for several eye and brain diseases are reviewed, where retinal oximetry may help confirm diagnosis or measure severity of disease. These include diabetic retinopathy, central retinal vein occlusion (CRVO), retinitis pigmentosa, glaucoma, and Alzheimer's disease. Methods: Retinal oximetry is based on spectrophotometric fundus imaging and measures oxygen saturation in retinal arterioles and venules in a noninvasive, quick, safe manner. Retinal oximetry detects changes in oxygen metabolism, including those that result from ischemia or atrophy...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28809830/overexpression-and-purification-of-human-cis-prenyltransferase-in-escherichia-coli
#3
Ilan Edri, Michal Goldenberg, Michal Lisnyansky, Roi Strulovich, Hadas Newman, Anat Loewenstein, Daniel Khananshvili, Moshe Giladi, Yoni Haitin
Prenyltransferases (PT) are a group of enzymes that catalyze chain elongation of allylic diphosphate using isopentenyl diphosphate (IPP) via multiple condensation reactions. DHDDS (dehydrodolichyl diphosphate synthase) is a eukaryotic long-chain cis-PT (forming cis double bonds from the condensation reaction) that catalyzes chain elongation of farnesyl diphosphate (FPP, an allylic diphosphate) via multiple condensations with isopentenyl diphosphate (IPP). DHDDS is of biomedical importance, as a non-conservative mutation (K42E) in the enzyme results in retinitis pigmentosa, ultimately leading to blindness...
August 3, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28807155/effects-of-lycium-barbarum-on-the-visual-system
#4
Abby L Manthey, Kin Chiu, Kwok-Fai So
Lycium barbarum (wolfberry, gogi berry, gouqizi, ) is one of the most widely used Chinese herbal medicines (CHMs) and is also one of the most scientifically studied. Indeed, the polysaccharide component of this berry (LBP) has been shown to have antioxidant, antiinflammatory, antiexcitotoxic, and antiapoptotic properties. These properties make it a particularly useful treatment option for the ocular environment. Although there are a handful of studies investigating the use of LBP to treat diseases affecting the lens, the vast majority of the published literature investigating LBP in the visual system focus on the retina...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28805479/on-variants-and-disease-causing-mutations-case-studies-of-a-sema4a-variant-identified-in-inherited-blindness
#5
Laura Bryant, Olga Lozynska, Grace Han, Jessica I W Morgan, Xiaowu Gai, Albert M Maguire, Tomas Aleman, Jean Bennett
The p.R713Q variant of the semaphorin-4a-encoding gene, SEMA4a, has been reported to cause autosomal dominant retinitis pigmentosa. Here we show three families with retinal degeneration in which unaffected family members are either homozygous or heterozygous for the variant. The p.R713Q variant in SEMA4A is insufficient to cause either autosomal recessive or autosomal dominant retinitis pigmentosa and is unlikely to be pathogenic.
August 14, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28798898/dark-adapted-chromatic-perimetry-for-measuring-rod-visual-fields-in-patients-with-retinitis-pigmentosa
#6
Lea D Bennett, Martin Klein, Kirsten G Locke, Kelly Kiser, David G Birch
PURPOSE: Although rod photoreceptors are initially affected in retinitis pigmentosa (RP), the full-field of rod vision is not routinely characterized due to the unavailability of commercial devices detecting rod sensitivity. The purpose of this study was to quantify rod-mediated vision in the peripheral field from patients with RP using a new commercially available perimeter. METHODS: Participants had one eye dilated and dark-adapted for 45 minutes. A dark-adapted chromatic (DAC) perimeter tested 80 loci 144° horizontally and 72° vertically with cyan stimuli...
July 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28798674/adaptive-gaze-strategies-for-locomotion-with-constricted-visual-field
#7
Colas N Authié, Alain Berthoz, José-Alain Sahel, Avinoam B Safran
In retinitis pigmentosa (RP), loss of peripheral visual field accounts for most difficulties encountered in visuo-motor coordination during locomotion. The purpose of this study was to accurately assess the impact of peripheral visual field loss on gaze strategies during locomotion, and identify compensatory mechanisms. Nine RP subjects presenting a central visual field limited to 10-25° in diameter, and nine healthy subjects were asked to walk in one of three directions-straight ahead to a visual target, leftward and rightward through a door frame, with or without obstacle on the way...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28794130/mutations-in-scaper-cause-autosomal-recessive-retinitis-pigmentosa-with-intellectual-disability
#8
Yasmin Tatour, Iker Sanchez-Navarro, Elana Chervinsky, Hakon Hakonarson, Haithum Gawi, Saoud Tahsin-Swafiri, Rina Leibu, Maria Isabel Lopez-Molina, Guillermo Fernandez-Sanz, Carmen Ayuso, Tamar Ben-Yosef
BACKGROUND: Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, with a worldwide prevalence of 1 in 4000 persons. While in most cases of RP, the disease is limited to the eye (non-syndromic), over 40 forms of syndromic RP have been described. OBJECTIVES: To identify the genetic basis for syndromic RP in three unrelated families from Israel and Spain. METHODS: Whole exome sequencing was conducted in one Israeli and two Spanish families segregating autosomal recessive RP with intellectual disability...
August 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28793152/identification-of-characters-and-localization-of-images-using-direct-multiple-electrode-stimulation-with-a-suprachoroidal-retinal-prosthesis
#9
Mohit N Shivdasani, Nicholas C Sinclair, Lisa N Gillespie, Matthew A Petoe, Samuel A Titchener, James B Fallon, Thushara Perera, Darien Pardinas-Diaz, Nick M Barnes, Peter J Blamey
Purpose: Retinal prostheses provide vision to blind patients by eliciting phosphenes through electrical stimulation. This study explored whether character identification and image localization could be achieved through direct multiple-electrode stimulation with a suprachoroidal retinal prosthesis. Methods: Two of three retinitis pigmentosa patients implanted with a suprachoroidal electrode array were tested on three psychophysical tasks. Electrode patterns were stimulated to elicit perception of simple characters, following which percept localization was tested using either static or dynamic images...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28782832/aav-delivery-of-grp78-bip-promotes-adaptation-of-human-rpe-cell-to-er-stress
#10
Shima Ghaderi, Shahin Ahmadian, Zahra-Soheila Soheili, Hamid Ahmadieh, Shahram Samiei, Samira Kheitan, Ehsan Ranaei Pirmardan
Adeno associated virus (AAV)-mediated gene delivery of GRP78 (78kDa glucose-regulated protein) attenuates the condition of endoplasmic reticulum (ER) stress and prevents apoptotic loss of photoreceptors in retinitis pigmentosa (RP) rats. In the current study we overexpressed Grp78 with the help of AAV-2 in primary human retinal pigmented epithelium (hRPE) cell cultures and examined its effect on cell response to ER stress. The purpose of this work was studying potential stimulating effect of GRP78 on adaptation/pro-survival of hRPE cells under ER stress, as an in vitro model for RPE degeneration...
August 7, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28776592/survival-analysis-of-visual-improvement-after-cataract-surgery-in-advanced-retinitis-pigmentosa
#11
T C Y Chan, S C Lam, S Mohamed, R L M Wong
No abstract text is available yet for this article.
August 4, 2017: Eye
https://www.readbyqxmd.com/read/28774569/the-condition-medium-of-mesenchymal-stem-cells-promotes-proliferation-adhesion-and-neuronal-differentiation-of-retinal-progenitor-cells
#12
Mingqi Zhang, Fenglei Zhang, Jin Sun, Yan Sun, Ling Xu, Donglei Zhang, Zhuoshi Wang, Wei He
Retinal progenitor cell is a promising candidate in the treatment of retinal pigmentosa diseases. The limiting factors of stem cell transplantation are the proliferation and differentiation capacities of hRPCs, which may be governed by culture conditions. Previous studies have proved that the secretome of human Umbilical Cord Mesenchymal stem cells (hUCMSCs) and human Adipose derived stem cells (hADSCs), including more active cytokines and neurotrophic factors, have the paracrine potential of enhancing proliferation and differentiation in several cell types...
July 31, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28767729/protective-effect-of-clusterin-on-rod-photoreceptor-in-rat-model-of-retinitis-pigmentosa
#13
Andrew Vargas, Hwa Sun Kim, Erika Baral, Wan-Qing Yu, Cheryl Mae Craft, Eun-Jin Lee
Retinitis Pigmentosa (RP) begins with the death of rod photoreceptors and is slowly followed by a gradual loss of cones and a rearrangement of the remaining retinal neurons. Clusterin is a chaperone protein that protects cells and is involved in various pathophysiological stresses, including retinal degeneration. Using a well-established transgenic rat model of RP (rhodopsin S334ter), we investigated the effects of clusterin on rod photoreceptor survival. To investigate the role of clusterin in S334ter-line3 retinas, Voronoi analysis and immunohistochemistry were used to evaluate the geometry of rod distribution...
2017: PloS One
https://www.readbyqxmd.com/read/28766925/posterior-column-ataxia-with-retinitis-pigmentosa-coexisting-with-sensory-autonomic-neuropathy-and-leukemia-due-to-the-homozygous-p-pro221ser-flvcr1-mutation
#14
Marco Castori, Silvia Morlino, Martin Ungelenk, Davide Pareyson, Ettore Salsano, Paola Grammatico, Emanuela Tolosano, Ingo Kurth, Deborah Chiabrando
FLVCR1 encodes for a ubiquitous heme exporter, whose recessive mutations cause posterior column ataxia with retinitis pigmentosa (PCARP). Recently, FLVCR1 recessive mutations were also found in two sporadic children with hereditary sensory-autonomic neuropathy (HSAN). We report the unique case of a 33-year-old Italian woman with a combination of typical PCARP, sensory-autonomic neuropathy with sensory loss to all modalities and multiple autonomic dysfuctions, and acute lymphocytic leukemia. Molecular analysis demonstrated homozygosity for the previously identified FLVCR1 p...
August 2, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28765615/the-phenotypic-variability-of-hk1-associated-retinal-dystrophy
#15
Zhisheng Yuan, Baiyu Li, Mingchu Xu, Emmanuel Y Chang, Huajin Li, Lizhu Yang, Shijing Wu, Zachry T Soens, Yumei Li, Lee-Jun C Wong, Richard A Lewis, Ruifang Sui, Rui Chen
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different retinal symptoms, demonstrating pleiotropic phenotype traits influenced by both underlying genetic and environmental factors. In the present study, we identified four unrelated IRD families with the HK1 p.E851K variant, which was previously reported to cause autosomal dominant retinitis pigmentosa (RP), and described their detailed clinical phenotypes...
August 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28765526/cdhr1-mutations-in-retinal-dystrophies
#16
Katarina Stingl, Anja K Mayer, Pablo Llavona, Lejla Mulahasanovic, Günther Rudolph, Samuel G Jacobson, Eberhart Zrenner, Susanne Kohl, Bernd Wissinger, Nicole Weisschuh
We report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the CDHR1 gene. Detailed ophthalmic examination was performed in seven sporadic and six familial subjects. Mutation screening was done using a customized next generation sequencing panel targeting 105 genes implicated in inherited retinal disorders. In one family, homozygosity mapping with subsequent candidate gene analysis was performed...
August 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28765492/pseudo-retinitis-pigmentosa-in-a-case-of-missed-intraocular-foreign-body
#17
Shreyas Temkar, Ritika Mukhija, Pradeep Venkatesh, Rohan Chawla
A 35-year-old man presented with history of painless, progressive loss of vision in the left eye for the past 7 years. There was history of trauma to the same eye with an iron object 7 years prior. Fundus examination revealed pigmentary retinopathy (unilateral advanced retinitis pigmentosa (RP)-like picture). X-ray orbits were suspicious of retained intraocular foreign body (IOFB). CT orbits confirmed the presence of IOFB. Electroretinogram revealed depressed responses. Right eye examination was within normal limits...
July 31, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28763560/choroidal-vasculature-in-bietti-crystalline-dystrophy-with-cyp4v2-mutations-and-in-retinitis-pigmentosa-with-eys-mutations
#18
Takako Hirashima, Manabu Miyata, Kenji Ishihara, Tomoko Hasegawa, Masako Sugahara, Ken Ogino, Munemitsu Yoshikawa, Masayuki Hata, Yoshimasa Kuroda, Yuki Muraoka, Sotaro Ooto, Nagahisa Yoshimura
Purpose: We compare the choroidal vascular area between Bietti crystalline dystrophy (BCD) patients with CYP4V2 mutations, retinitis pigmentosa (RP) patients with EYS mutations, and normal controls, and investigate the correlation between choroidal vascular area and associated parameters. Methods: This prospective case-series study included consecutive nine eyes of nine BCD patients with CYP4V2 mutations (BCD group), 16 eyes of 16 RP patients with EYS mutations (EYS-RP group), and 16 eyes of 16 normal volunteers matched for age and axial length (control group)...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28763557/c2orf71-mutations-as-a-frequent-cause-of-autosomal-recessive-retinitis-pigmentosa-clinical-analysis-and-presentation-of-8-novel-mutations
#19
MULTICENTER STUDY
Christina Gerth-Kahlert, Amit Tiwari, James V M Hanson, Vaishnavi Batmanabane, Elias Traboulsi, Mark E Pennesi, Abdullah A Al-Qahtani, Byron L Lam, John Heckenlively, Sandrine A Zweifel, Ajoy Vincent, Fabienne Fierz, Daniel Barthelmes, Kari Branham, Naheed Khan, Angela Bahr, Luzy Baehr, István Magyar, Samuel Koller, Silvia Azzarello-Burri, Dunja Niedrist, Elise Heon, Wolfgang Berger
Purpose: To define the phenotype of C2orf71 associated retinopathy and to present novel mutations in this gene. Methods: A retrospective multicenter study of patients with retinopathy and identified C2orf71 mutations was performed. Ocular function (visual acuity, visual fields, electroretinogram [ERG] responses); retinal morphology (fundus, optical coherence tomography); and underlying mutations were analyzed. Results: Thirteen patients from 11 families, who were aged 7 to 63 years (mean: 32...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28761320/next-generation-sequencing-to-solve-complex-inherited-retinal-dystrophy-a-case-series-of-multiple-genes-contributing-to-disease-in-extended-families
#20
Kaylie D Jones, Dianna K Wheaton, Sara J Bowne, Lori S Sullivan, David G Birch, Rui Chen, Stephen P Daiger
PURPOSE: With recent availability of next-generation sequencing (NGS), it is becoming more common to pursue disease-targeted panel testing rather than traditional sequential gene-by-gene dideoxy sequencing. In this report, we describe using NGS to identify multiple disease-causing mutations that contribute concurrently or independently to retinal dystrophy in three relatively small families. METHODS: Family members underwent comprehensive visual function evaluations, and genetic counseling including a detailed family history...
2017: Molecular Vision
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