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https://www.readbyqxmd.com/read/29150681/the-structure-function-relationship-measured-with-optical-coherence-tomography-and-a-microperimeter-with-auto-tracking-the-mp-3-in-patients-with-retinitis-pigmentosa
#1
Yuichi Asahina, Marie Kitano, Yohei Hashimoto, Mieko Yanagisawa, Hiroshi Murata, Tatsuya Inoue, Ryo Obata, Ryo Asaoka
The purpose of the current study was to investigate the structure-function relationship in patients with retinitis pigmentosa (RP) using optical coherence tomography and the MP-3 microperimeter. Visual field (VF) measurements were carried out using MP-3 microperimetry and the Humphrey Field Analyzer (HFA, Carl-Zeiss, CA), 22 eyes of 11 patients with a clinical diagnosis of RP, both with the 10-2 test grid pattern. Optical coherence tomography (OCT, Spectralis, Heidelberg, Germany) was also performed and the ellipsoid zone (EZ) was identified in the OCT image...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29150673/m%C3%A3-ller-glial-micrornas-are-required-for-the-maintenance-of-glial-homeostasis-and-retinal-architecture
#2
Stefanie G Wohl, Nikolas L Jorstad, Edward M Levine, Thomas A Reh
To better understand the roles of microRNAs in glial function, we used a conditional deletion of Dicer1 (Dicer-CKOMG) in retinal Müller glia (MG). Dicer1 deletion from the MG leads to an abnormal migration of the cells as early as 1 month after the deletion. By 6 months after Dicer1 deletion, the MG form large aggregations and severely disrupt normal retinal architecture and function. The most highly upregulated gene in the Dicer-CKOMG MG is the proteoglycan Brevican (Bcan) and overexpression of Bcan results in similar aggregations of the MG in wild-type retina...
November 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/29148976/small-molecule-photoregulin3-prevents-retinal-degeneration-in-the-rho-p23h-mouse-model-of-retinitis-pigmentosa
#3
Paul A Nakamura, Andy A Shimchuk, Shibing Tang, Zhizhi Wang, Kole DeGolier, Sheng Ding, Thomas A Reh
Regulation of rod gene expression has emerged as a potential therapeutic strategy to treat retinal degenerative diseases like retinitis pigmentosa (RP). We previously reported on a small molecule modulator of the rod transcription factor Nr2e3, Photoregulin1 (PR1), that regulates the expression of photoreceptor-specific genes. Although PR1 slows the progression of retinal degeneration in models of RP in vitro, in vivo analyses were not possible with PR1. We now report a structurally unrelated compound, Photoregulin3 (PR3) that also inhibits rod photoreceptor gene expression, potentially though Nr2e3 modulation...
November 17, 2017: ELife
https://www.readbyqxmd.com/read/29148588/pleomorphic-mastocytoma-in-an-adult
#4
Vicente Exposito-Serrano, Eugenia Agut-Busquet, Lorena Leal Canosa, Jose Herrerías Moreno, Amparo Saez, Jesús Luelmo
A cutaneous mastocytoma (CM) is a clinical variant of cutaneous mastocytosis. It is defined as the presence of up to 3 isolated mast cell skin lesions. When only 1 lesion is observed, the patient is classified as having a solitary mastocytoma, and when 4 or more lesions are observed, the patient should be classified as having urticaria pigmentosa (1).
November 17, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/29145208/curcumin-delays-retinal-degeneration-by-regulating-microglia-activation-in-the-retina-of-rd1-mice
#5
Yanhe Wang, Zhiyuan Yin, Lixiong Gao, Dayu Sun, Xisu Hu, Langyue Xue, Jiaman Dai, YuXiao Zeng, Siyu Chen, Boju Pan, Min Chen, Jing Xie, Haiwei Xu
BACKGROUND/AIMS: Retinitis pigmentosa (RP) is characterized by degeneration of photoreceptors, and there are currently no effective treatments for this disease. However, curcumin has shown neuroprotectant efficacy in a RP rat and swine model, and thus, may have neuroprotective effects in this disease. METHODS: Immunofluorescence staining, electroretinogram recordings, and behavioral tests were used to analyze the effects of curcumin and the underlying mechanism in retinal degeneration 1 (rd1) mice...
November 17, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29141905/adaptive-optics-imaging-of-inherited-retinal-diseases
#6
REVIEW
Michalis Georgiou, Angelos Kalitzeos, Emily J Patterson, Alfredo Dubra, Joseph Carroll, Michel Michaelides
Adaptive optics (AO) ophthalmoscopy allows for non-invasive retinal phenotyping on a microscopic scale, thereby helping to improve our understanding of retinal diseases. An increasing number of natural history studies and ongoing/planned interventional clinical trials exploit AO ophthalmoscopy both for participant selection, stratification and monitoring treatment safety and efficacy. In this review, we briefly discuss the evolution of AO ophthalmoscopy, recent developments and its application to a broad range of inherited retinal diseases, including Stargardt disease, retinitis pigmentosa and achromatopsia...
November 15, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29140735/factors-associated-with-visual-acuity-in-patients-with-cystoid-macular-oedema-and-retinitis-pigmentosa
#7
Gerald Liew, Anthony T Moore, Patrick D Bradley, Andrew R Webster, Michel Michaelides
PURPOSE: Retinitis pigmentosa is the most common inherited retinal dystrophy. The factors associated with visual acuity in patients with other retinal diseases are well known, but are poorly understood in patients with retinitis pigmentosa. This knowledge is useful for prognosis and to support secondary endpoints in clinical trials. METHODS: We conducted a cross-sectional study of consecutive patients recruited from the inherited retinal disease service from January 2012 to December 2012...
November 15, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/29135076/a-heterozygous-mutation-in-rpgr-associated-with-x-linked-retinitis-pigmentosa-in-a-patient-with-turner-syndrome-mosaicism-45-x-46-xx
#8
Qi Zhou, Fengxia Yao, Feng Wang, Hui Li, Rui Chen, Ruifang Sui
Turner syndrome with retinitis pigmentosa (RP) is rare, with only three cases reported based on clinical examination alone. We summarized the 4-year follow-up and molecular findings in a 28-year-old patient with Turner syndrome and the typical features of short stature and neck webbing, who also had X-linked RP. Her main complaints were night blindness and progressive loss of vision since the age of 9 years. Ophthalmologic examination, optical coherent tomographic imaging, and visual electrophysiology tests showed classic manifestations of RP...
November 14, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29134295/rod-versus-cone-driven-ergs-at-different-stimulus-sizes-in-normal-subjects-and-retinitis-pigmentosa-patients
#9
Avinash J Aher, Declan J McKeefry, Neil R A Parry, John Maguire, I J Murray, Tina I Tsai, Cord Huchzermeyer, Jan Kremers
PURPOSE: To study how rod- and cone-driven responses depend on stimulus size in normal subjects and patients with retinitis pigmentosa (RP), and to show that comparisons between responses to full-field (FF) and smaller stimuli can be useful in diagnosing and monitoring disorders of the peripheral retina without the need for lengthy dark adaptation periods. METHOD: The triple silent substitution technique was used to isolate L-cone-, M-cone- and rod-driven ERGs with 19, 18 and 33% photoreceptor contrasts, respectively, under identical mean luminance conditions...
November 13, 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/29133643/next-generation-sequencing-reveals-a-novel-ndp-gene-mutation-in-a-chinese-family-with-norrie-disease
#10
Xiaoyan Huang, Mao Tian, Jiankang Li, Ling Cui, Min Li, Jianguo Zhang
PURPOSE: Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genetic defect in a five-generation family with typical symptoms of ND. METHODS: To identify the causative gene, next-generation sequencing based target capture sequencing was performed...
November 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29130647/randomized-controlled-trial-of-electro-stimulation-therapies-to-modulate-retinal-blood-flow-and-visual-function-in-retinitis-pigmentosa
#11
Ava K Bittner, Kenneth Seger, Rachel Salveson, Samantha Kayser, Natalia Morrison, Patricia Vargas, Deborah Mendelsohn, Jorge Han, Hua Bi, Gislin Dagnelie, Alexandra Benavente, Jessica Ramella-Roman
PURPOSE: We examined changes in visual function and ocular and retinal blood flow (RBF) among retinitis pigmentosa (RP) participants in a randomized controlled trial of electro-stimulation therapies. METHODS: Twenty-one RP participants were randomized (1:1:1) to transcorneal electrical stimulation (TES) at 6 weekly half-hour sessions, electro-acupuncture or inactive laser acupuncture (sham control) at 10 half-hour sessions over 2 weeks. Early Treatment of Diabetic Retinopathy Study (ETDRS) visual acuity (VA), quick contrast sensitivity function, Goldmann visual fields, AdaptDx scotopic sensitivity, spectral flow and colour Doppler imaging of the central retinal artery (CRA), and RBF in macular capillaries were measured twice pre-treatment, after 2 TES sessions, within a week and a month after intervention completion...
November 11, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29130579/a-homozygous-deleterious-cdk10-mutation-in-a-patient-with-agenesis-of-corpus-callosum-retinopathy-and-deafness
#12
Vincent J Guen, Simon Edvardson, Nitay D Fraenkel, Aviva Fattal-Valevski, Chaim Jalas, Irene Anteby, Avraham Shaag, Talia Dor, David Gillis, Eitan Kerem, Jacqueline A Lees, Pierre Colas, Orly Elpeleg
The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29126840/neuroprotective-effect-of-cannabinoid-receptor-1-antagonist-in-the-mnu-induced-retinal-degeneration-model
#13
Yuanyuan Chen, Xue Luo, Shiliang Liu, Yin Shen
Endocannabinoid system involves in neuroprotective effects on the central neural system. The cannabinoid receptor 1 (CB1R) is widely expressed in the mouse retina. However, the role of cannabinoid receptors in the retina remains unclear. In this work, we established a photoreceptor degeneration mouse model via N-methyl-N-nitrosourea (MNU) administration to identify the neuroprotective effects of cannabinoid receptors. The MNU-induced retinal degeneration behaves similarly to that in the human retinitis pigmentosa (RP)...
November 7, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/29124689/xeroderma-pigmentosa-group-a-xpa-nucleotide-excision-repair-and-regulation-by-atr-in-response-to-ultraviolet-irradiation
#14
Phillip R Musich, Zhengke Li, Yue Zou
The sensitivity of Xeroderma pigmentosa (XP) patients to sunlight has spurred the discovery and genetic and biochemical analysis of the eight XP gene products (XPA-XPG plus XPV) responsible for this disorder. These studies also have served to elucidate the nucleotide excision repair (NER) process, especially the critical role played by the XPA protein. More recent studies have shown that NER also involves numerous other proteins normally employed in DNA metabolism and cell cycle regulation. Central among these is ataxia telangiectasia and Rad3-related (ATR), a protein kinase involved in intracellular signaling in response to DNA damage, especially DNA damage-induced replicative stresses...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29122605/phenotypic-characterization-of-p23h-and-s334ter-rhodopsin-transgenic-rat-models-of-inherited-retinal-degeneration
#15
Matthew M LaVail, Shimpei Nishikawa, Roy H Steinberg, Muna I Naash, Jacque L Duncan, Nikolaus Trautmann, Michael T Matthes, Douglas Yasumura, Cathy Lau-Villacorta, Jeannie Chen, Ward M Peterson, Haidong Yang, John G Flannery
We produced 8 lines of transgenic (Tg) rats expressing one of two different rhodopsin mutations in albino Sprague-Dawley (SD) rats. Three lines were generated with a proline to histidine substitution at codon 23 (P23H), the most common autosomal dominant form of retinitis pigmentosa in the United States. Five lines were generated with a termination codon at position 334 (S334ter), resulting in a C-terminal truncated opsin protein lacking the last 15 amino acid residues and containing all of the phosphorylation sites involved in rhodopsin deactivation, as well as the terminal QVAPA residues important for rhodopsin deactivation and trafficking...
November 6, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/29120066/a-novel-nonsense-variant-in-reep6-is-involved-in-a-sporadic-rod-cone-dystrophy-case
#16
C Méjécase, S Mohand-Saïd, S El Shamieh, A Antonio, C Condroyer, S Blanchard, M Letexier, J-P Saraiva, J-A Sahel, I Audo, C Zeitz
Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is the most common form of progressive inherited retinal disorders secondary to photoreceptor degeneration. It is a genetically heterogeneous disease characterized by night blindness, followed by visual field constriction and, in most severe cases, total blindness. The aim of our study was to identify the underlying gene defect leading to severe RCD in a 60-year-old woman. The patient's DNA was investigated by targeted next generation sequencing followed by whole exome sequencing...
November 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29118501/novel-pde6a-mutation-in-an-emirati-patient-with-retinitis-pigmentosa
#17
Pratibha Nair, Abdul Rezzak Hamzeh, Ethar Mustafa Malik, Darshjit Oberoi, Mahmoud Taleb Al-Ali, Fatma Bastaki
Mutations in the PDE6A gene are known to cause a form of retinitis pigmentosa (RP43), characterized by progressive retinal degeneration. We describe an Emirati patient with RP caused by a novel mutation in PDE6A. Clinical diagnosis of RP was made based on clinical evaluation and electroretinograms. The molecular analysis involved performing whole-exome sequencing, which enabled the identification of a homozygous 2-bp deletion (c.1358_1359delAT) in PDE6A, which was predicted to result in a frameshift and premature termination (p...
September 2017: Oman Journal of Ophthalmology
https://www.readbyqxmd.com/read/29113466/perspectives-of-stem-cell-based-therapy-for-age-related-retinal-degenerative-diseases
#18
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 that could replace diseased or missing retinal cells and support regeneration...
September 2017: Cell Transplantation
https://www.readbyqxmd.com/read/29111861/compound-heterozygous-variants-in-ift140-as-a-cause-of-nonsyndromic-retinitis-pigmentosa
#19
Tisiana Low, Anastassios Kostakis, Meena Balasubramanian
No abstract text is available yet for this article.
November 7, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29110946/assessment-of-the-electronic-retinal-implant-alpha-ams-in-restoring-vision-to-blind-patients-with-end-stage-retinitis-pigmentosa
#20
Thomas L Edwards, Charles L Cottriall, Kanmin Xue, Matthew P Simunovic, James D Ramsden, Eberhart Zrenner, Robert E MacLaren
PURPOSE: To report the initial efficacy results of the Retina Implant Alpha AMS (Retina Implant AG, Reutlingen, Germany) for partial restoration of vision in end-stage retinitis pigmentosa (RP). DESIGN: Prospective, single-arm, investigator-sponsored interventional clinical trial. Within-participant control comprising residual vision with the retinal implant switched ON versus OFF in the implanted eye. PARTICIPANTS: The Retina Implant Alpha AMS was implanted into the worse-seeing eye of 6 participants with end-stage RP and no useful perception of light vision...
October 27, 2017: Ophthalmology
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