keyword
MENU ▼
Read by QxMD icon Read
search

Pigmentosa

keyword
https://www.readbyqxmd.com/read/28351048/retinitis-pigmentosa-and-other-dystrophies
#1
Sarah Mrejen, Isabelle Audo, Sébastien Bonnel, José-Alain Sahel
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations characterized by progressive degeneration of rod and cone cells that affects predominantly peripheral visual fields. Macular edema may cause additional central visual acuity decrease. Cystoid macular edema (CME) is one of the few treatable causes of visual loss in RP. The prevalence of CME in RP has been found to be between 10 and 20% on fluorescein angiography-based studies, and as high as 49% on reports based on optical coherence tomography...
2017: Developments in Ophthalmology
https://www.readbyqxmd.com/read/28341475/genotypic-and-phenotypic-characteristics-of-crb1-associated-retinal-dystrophies-a-long-term-follow-up-study
#2
Mays Talib, Mary J van Schooneveld, Maria M van Genderen, Jan Wijnholds, Ralph J Florijn, Jacoline B Ten Brink, Nicoline E Schalij-Delfos, Gislin Dagnelie, Frans P M Cremers, Ron Wolterbeek, Marta Fiocco, Alberta A Thiadens, Carel B Hoyng, Caroline C Klaver, Arthur A Bergen, Camiel J F Boon
PURPOSE: To describe the phenotype, long-term clinical course, clinical variability, and genotype of patients with CRB1-associated retinal dystrophies. DESIGN: Retrospective cohort study. PARTICIPANTS: Fifty-five patients with CRB1-associated retinal dystrophies from 16 families. METHODS: A medical record review of 55 patients for age at onset, medical history, initial symptoms, best-corrected visual acuity, ophthalmoscopy, fundus photography, full-field electroretinography (ffERG), Goldmann visual fields (VFs), and spectral-domain optical coherence tomography...
March 13, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28331282/reduced-phosphocreb-in-m%C3%A3-ller-glia-during-retinal-degeneration-in-rd10-mice
#3
Enheng Dong, Amelia Bachleda, Yubin Xiong, Shoji Osawa, Ellen R Weiss
PURPOSE: The mechanisms that trigger retinal degeneration are not well understood, despite the availability of several animal models with different mutations. In the present report, the rd10 mouse, a model for retinitis pigmentosa (RP) that contains a mutation in the gene for PDE6β (Pde6b), is used to evaluate gliosis, as a marker for retinal stress, and cyclic AMP response element binding protein (CREB) phosphorylation, which may be important early in retinal degeneration. METHODS: Wild-type C57Bl6J and rd10 mice raised under cyclic light were examined for changes in gliosis and CREB phosphorylation for approximately 3 weeks beginning at P14 to P17 using immunocytochemistry...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28331281/the-involvement-of-atf4-and-s-opsin-in-retinal-photoreceptor-cell-damage-induced-by-blue-led-light
#4
Emi Ooe, Kazuhiro Tsuruma, Yoshiki Kuse, Saori Kobayashi, Masamitsu Shimazawa, Hideaki Hara
PURPOSE: Blue light is a high-energy emitting light with a short wavelength in the visible light spectrum. Blue light induces photoreceptor apoptosis and causes age-related macular degeneration or retinitis pigmentosa. In the present study, we investigated the roles of endoplasmic reticulum (ER) stress induced by blue light-emitting diode (LED) light exposure in murine photoreceptor cells. METHODS: The murine photoreceptor cell line was incubated and exposed to blue LED light (464 nm blue LED light, 450 lx, 3 to 24 h)...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28328617/cutaneous-mastocytosis-with-atypical-mast-cells-in-a-7-year-old-girl
#5
Gabriel Marrero Alemán, Constantin El Habr, Diana Islas Norris, Társila Montenegro Dámaso, Leopoldo Borrego, Omar P Sangueza
Cutaneous mastocytosis is defined by the presence of mast cells within the skin in the absence of other criteria for the diagnosis of systemic mastocytosis. Mast cells are characterized by an abundant granular cytoplasm and a round to oval or spindle-shaped nuclei. The presence of mast cells with bilobed and multilobed nuclei in cutaneous mastocytosis is a rare phenomenon and has been rarely reported in the literature. To our knowledge, there are only 4 reported cases of cutaneous mastocytosis with atypical mast cells...
April 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28324979/strategies-to-improve-stimulation-efficiency-for-retinal-prostheses
#6
Navya S Davuluri, Kiran Nimmagadda, Artin Petrossians, Mark S Humayun, James D Weiland
Retinitis Pigmentosa (RP) is a degenerative disease of the retina that leads to vision loss. Retinal prostheses are being developed in order to restore functional vision in patients suffering from RP. We conducted in-vivo experiments in order to identify strategies to efficiently stimulate the retina. We electrically stimulated the retina and measured electrically evoked potentials (EERs) from the superior colliculus of rats. We compared the strength of EERs when voltage-controlled and current-controlled pulses of varying pulse width and charge levels were applied to the retina...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28324114/novel-25-kb-deletion-of-mertk-causes-retinitis-pigmentosa-with-severe-progression
#7
Daniel R Evans, Jane S Green, Gordon J Johnson, Jeremy Schwartzentruber, Jacek Majewski, Chandree L Beaulieu, Wen Qin, Christian R Marshall, Tara A Paton, Nicole M Roslin, Andrew D Paterson, Somayyeh Fahiminiya, Justin French, Kym M Boycott, Michael O Woods
Purpose: Retinitis pigmentosa (RP) describes a complex group of inherited retinal dystrophies with almost 300 reported genes and loci. We investigated the genetic etiology of autosomal recessive RP (arRP) in a large kindred with 5 affected family members, who reside on the island of Newfoundland, Canada. Methods: Genetic linkage analysis was performed on 12 family members (Infinium HumanOmni2.5-8 BeadChip). Whole exome sequencing analysis (Illumina HiSeq) was performed on one affected individual...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28324111/arap1-deficiency-causes-photoreceptor-degeneration-in-mice
#8
Ala Moshiri, Devin Humpal, Brian C Leonard, Denise M Imai, Addy Tham, Lynette Bower, Dave Clary, Thomas M Glaser, K C Kent Lloyd, Christopher J Murphy
Purpose: Small guanosine triphosphatase (GTPase) ADP-ribosylation factors (Arfs) regulate membrane traffic and actin reorganization under the control of GTPase-activating proteins (GAPs). Arap1 is an Arf-directed GAP that inhibits the trafficking of epidermal growth factor receptor (EGFR) to the early endosome, but the diversity of its functions is incompletely understood. The aim of this study was to determine the role of Arap1 in the mammalian retina. Methods: Genetically engineered Arap1 knockout mice were screened for ocular abnormalities in the National Institutes of Health Knockout Mouse Production and Phenotyping (KOMP2) Project...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28322733/quantitative-analysis-of-retinal-structure-using-spectral-domain-optical-coherence-tomography-in-rpgr-associated-retinopathy
#9
James J L Tee, Joseph Carroll, Andrew R Webster, Michel Michaelides
PURPOSE: Quantification of retinal structure and progression using spectral-domain optical coherence tomography (SDOCT) in patients with retinitis pigmentosa (RP) associated with retinitis pigmentosa GTPase regulator gene (RPGR) mutations DESIGN: Retrospective observational case series METHODS: Setting: Moorfields Eye Hospital, London, United Kingdom. SUBJECTS: Both eyes of 32 patients. SDOCT follow-up period of >1 year (3.1±1.4 years). OUTCOME MEASURES: Ellipsoid zone (EZ) width (EZW), outer nuclear layer (ONL) and inner retinal layer (IRL) thickness measurements...
March 16, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28316877/progression-of-pro23his-retinopathy-in-a-miniature-swine-model-of-retinitis-pigmentosa
#10
Patrick A Scott, Juan P Fernandez de Castro, Paul J DeMarco, Jason W Ross, Josephat Njoka, Eric Walters, Randall S Prather, Maureen A McCall, Henry J Kaplan
PURPOSE: We characterize the progression of retinopathy in Filial 1 (F1) progeny of a transgenic (Tg) founder miniswine exhibiting severe Pro23His (P23H) retinopathy. METHODS: The F1 TgP23H miniswine progeny were created by crossing TgP23H founder miniswine 53-1 with wild type (WT) inbred miniature swine. Scotopic (rod-driven) and photopic (cone-driven) retinal functions were evaluated in F1 TgP23H and WT littermates using full field electroretinograms (ffERGs) at 1, 2, 3, 6, 9, 12, and 18 months of age, as well as the Tg founder miniswine at 6 years of age...
March 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28315291/perspectives-of-stem-cell-based-therapy-for-age-related-retinal-degenerative-diseases
#11
Vladimir Holan, Barbora Hermankova, Jan Kossl
Retinal degenerative diseases, which include age-related macular degeneration, retinitis pigmentosa, diabetic retinopathy and glaucoma, mostly affect the elderly population, and are the most common cause of decreased quality of vision or even blindness. So far, there is no satisfactory treatment protocol to prevent, stop or cure these disorders. A great hope and promise for patients suffering from retinal diseases is represented by stem cell-based therapy which could replace diseased or missing retinal cells, and support regeneration...
March 17, 2017: Cell Transplantation
https://www.readbyqxmd.com/read/28314954/retinal-and-choroidal-vascular-features-in-patients-with-retinitis-pigmentosa-imaged-by-oct-based-microangiography
#12
Kasra A Rezaei, Qinqin Zhang, Chieh-Li Chen, Jennifer Chao, Ruikang K Wang
PURPOSE: To image vascular features of retinitis pigmentosa (RP) using optical coherence tomography angiography (OCTA). METHODS: Patients with RP were imaged by spectral domain optical coherence tomography based angiography (OCTA). The optical microangiography (OMAG) algorithm was applied to scanned datasets to generate 3D OCTA retinal angiograms, i.e., OMAG angiograms. Motion tracking was used to minimize artifacts due to eye movement, and large field of view OMAG angiograms were achieved through a montage scanning protocol...
March 17, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28302505/evaluation-of-selenide-diselenide-and-selenoheterocycle-derivatives-as-carbonic-anhydrase-i-ii-iv-vii-and-ix-inhibitors
#13
Andrea Angeli, Damiano Tanini, Caterina Viglianisi, Lucia Panzella, Antonella Capperucci, Stefano Menichetti, Claudiu T Supuran
A series of selenides, diselenides and organoselenoheterocycles were evaluated as carbonic anhydrase (CA, EC 4.2.1.1) inhibitors against the human (h) isoforms hCA I, II, IV, VII and IX, involved in a variety of diseases among which glaucoma, retinitis pigmentosa, epilepsy, arthritis and tumors etc. These investigated compounds showed inhibitory action against these isoforms and some of them were selective for inhibiting the cytosolic over the membrane-bound isoforms, thus making them interesting leads for the development of isoform-selective inhibitors...
March 6, 2017: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/28299008/intravitreal-injection-of-bone-marrow-mesenchymal-stem-cells-in-patients-with-advanced-retinitis-pigmentosa-a-safety-study
#14
Leila Satarian, Ramin Nourinia, Sare Safi, Mozhgan Rezaei Kanavi, Neda Jarughi, Narsis Daftarian, Leila Arab, Nasser Aghdami, Hamid Ahmadieh, Hossein Baharvand
PURPOSE: To examine the safety of a single intravitreal injection of autologous bone Marrow Mesenchymal stem cells (MSCs) in patients with advanced retinitis pigmentosa (RP). METHODS: A prospective, phase I, nonrandomized, open-label study was conducted on 3 eyes of 3 volunteers with advanced RP. Visual acuity, slit-lamp examination, fundus examination, optical coherence tomography, fundus auto-fluorescence, fluorescein angiography and multifocal electroretinography were performed before and after an intravitreal injection of approximately one-million MSCs...
January 2017: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/28298640/combined-transplantation-of-human-mesenchymal-stem-cells-and-human-retinal-progenitor-cells-into-the-subretinal-space-of-rcs-rats
#15
Linghui Qu, Lixiong Gao, Haiwei Xu, Ping Duan, Yuxiao Zeng, Yong Liu, Zheng Qin Yin
Retinitis pigmentosa (RP) is one of hereditary retinal diseases characterized by the loss of photoreceptors. Cell transplantation has been clinically applied to treat RP patients. Human retinal progenitor cells (HRPCs) and human bone marrow-derived mesenchymal stem cells (HBMSCs) are the two commonly and practically used stem cells for transplantation. Since combined transplantation could be a promising way to integrate the advantages of both stem cell types, we transplanted HRPCs and HBMSCs into the subretinal space (SRS) of Royal College of Surgeons (RCS) rats...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28294154/analysis-of-rp2-and-rpgr-mutations-in-five-x-linked-chinese-families-with-retinitis-pigmentosa
#16
Jingjing Jiang, Xiaofei Wu, Di Shen, Lijin Dong, Xiaodong Jiao, J Fielding Hejtmancik, Ningdong Li
Mutations in RP2 and RPGR genes are responsible for the X-linked retinitis pigmentosa (XLRP). In this study, we analyzed the RP2 and RPGR gene mutations in five Han Chinese families with XLRP. An approximately 17Kb large deletion including the exon 4 and exon 5 of RP2 gene was found in an XLRP family. In addition, four frameshift mutations including three novel mutations of c.1059 + 1 G > T, c.2002dupC and c.2236_2237del CT, as well as a previously reported mutation of c.2899delG were detected in the RPGR gene in the other four families...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28291770/nrl-knockdown-by-aav-delivered-crispr-cas9-prevents-retinal-degeneration-in-mice
#17
Wenhan Yu, Suddhasil Mookherjee, Vijender Chaitankar, Suja Hiriyanna, Jung-Woong Kim, Matthew Brooks, Yasaman Ataeijannati, Xun Sun, Lijin Dong, Tiansen Li, Anand Swaroop, Zhijian Wu
In retinitis pigmentosa, loss of cone photoreceptors leads to blindness, and preservation of cone function is a major therapeutic goal. However, cone loss is thought to occur as a secondary event resulting from degeneration of rod photoreceptors. Here we report a genome editing approach in which adeno-associated virus (AAV)-mediated CRISPR/Cas9 delivery to postmitotic photoreceptors is used to target the Nrl gene, encoding for Neural retina-specific leucine zipper protein, a rod fate determinant during photoreceptor development...
March 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28291071/circinate-partition-like-findings-on-cone-mosaic-imaged-by-adaptive-optics-scanning-laser-ophthalmoscopy-in-eyes-with-inner-nuclear-layer-microcystic-changes
#18
Tomoko Hasegawa, Sotaro Ooto, Yukiko Makiyama, Masayuki Hata, Kazuaki Miyamoto, Nagahisa Yoshimura
PURPOSE: To report cases that showed partition-like, dark areas in the cone mosaic on adaptive optics scanning laser ophthalmoscopy (AO-SLO) images in eyes with inner nuclear layer (INL) microcystic changes. METHODS: Eyes with INL microcystic changes were imaged by prototype AO-SLO. RESULTS: An eye with Leber hereditary optic neuropathy, an eye with traumatic optic neuropathy, and an eye with retinitis pigmentosa that showed microcystic lesions in the INL were imaged by AO-SLO...
March 13, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28290600/possible-protective-role-of-the-abca4-gene-c-1268a-g-missense-variant-in-stargardt-disease-and-syndromic-retinitis-pigmentosa-in-a-sicilian-family-preliminary-data
#19
Rosalia D'Angelo, Luigi Donato, Isabella Venza, Concetta Scimone, Pasquale Aragona, Antonina Sidoti
In the wide horizon of ophthalmologically rare diseases among retinitis pigmentosa forms, Stargardt disease has gradually assumed a significant role due to its heterogeneity. In the present study, we aimed to support one of two opposite hypotheses concerning the causative or protective role of heterozygous c.1268A>G missense variant of the ABCA4 gene in Stargardt disease and in syndromic retinitis pigmentosa. This study was based on a family consisting of three members: proband, age 54, with high myopia, myopic chorioretinitis and retinal dystrophy; wife, age 65, with mild symptoms; daughter, age 29, asymptomatic...
March 10, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28285769/mutations-in-the-spliceosome-component-cwc27-cause-retinal-degeneration-with-or-without-additional-developmental-anomalies
#20
Mingchu Xu, Yajing Angela Xie, Hana Abouzeid, Christopher T Gordon, Alessia Fiorentino, Zixi Sun, Anna Lehman, Ihab S Osman, Rachayata Dharmat, Rosa Riveiro-Alvarez, Linda Bapst-Wicht, Darwin Babino, Gavin Arno, Virginia Busetto, Li Zhao, Hui Li, Miguel A Lopez-Martinez, Liliana F Azevedo, Laurence Hubert, Nikolas Pontikos, Aiden Eblimit, Isabel Lorda-Sanchez, Valeria Kheir, Vincent Plagnol, Myriam Oufadem, Zachry T Soens, Lizhu Yang, Christine Bole-Feysot, Rolph Pfundt, Nathalie Allaman-Pillet, Patrick Nitschké, Michael E Cheetham, Stanislas Lyonnet, Smriti A Agrawal, Huajin Li, Gaëtan Pinton, Michel Michaelides, Claude Besmond, Yumei Li, Zhisheng Yuan, Johannes von Lintig, Andrew R Webster, Hervé Le Hir, Peter Stoilov, Jeanne Amiel, Alison J Hardcastle, Carmen Ayuso, Ruifang Sui, Rui Chen, Rando Allikmets, Daniel F Schorderet
Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome components have been linked to a set of non-overlapping spliceosomopathy phenotypes in humans, among which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent findings. Here we report that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated RP to severe syndromic forms...
March 6, 2017: American Journal of Human Genetics
keyword
keyword
120267
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"