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Retinitis pigmentosa

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https://www.readbyqxmd.com/read/29140735/factors-associated-with-visual-acuity-in-patients-with-cystoid-macular-oedema-and-retinitis-pigmentosa
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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/29122605/phenotypic-characterization-of-p23h-and-s334ter-rhodopsin-transgenic-rat-models-of-inherited-retinal-degeneration
#8
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
#9
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
#10
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
#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 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
#12
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
#13
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
https://www.readbyqxmd.com/read/29100828/conditional-loss-of-spata7-in-photoreceptors-causes-progressive-retinal-degeneration-in-mice
#14
Aiden Eblimit, Smriti Akshay Agrawal, Kandace Thomas, Ivan Assenov Anastassov, Tajiguli Abulikemu, Graeme Mardon, Rui Chen
The mammalian retina consists of multiple cell layers including photoreceptor cells, which are light sensing neurons that play essential functions in the visual process. Previously, we identified mutations in SPATA7, encoding spermatogenesis associated protein 7, in families with Leber Congenital Amaurosis (LCA) and juvenile Retinitis Pigmentosa (RP), and showed that Spata7 null mice recapitulate the human disease phenotype of retinal degeneration. SPATA7 is expressed in the connecting cilium of photoreceptor (PR) cells in the mouse retina, as well as in retinal pigment epithelium (RPE) cells, but the functional role of Spata7 in the RPE remains unknown...
October 31, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/29098796/ganglion-cell-inner-plexiform-layer-and-retinal-nerve-fibre-layer-changes-within-the-macula-in-retinitis-pigmentosa-a-spectral-domain-optical-coherence-tomography-study
#15
Chang Ki Yoon, Hyeong Gon Yu
PURPOSE: To investigate how macular ganglion cell-inner plexiform layer (GCIPL) and retinal nerve fibre layer (RNFL) thicknesses within the macula change with retinitis pigmentosa (RP) severity. METHODS: Spectral domain optical coherence tomography (SD-OCT) was used to examine 177 patients with RP and 177 normal controls. An optical coherence tomography (OCT) line scan was used to grade RP severity. Retinitis pigmentosa (RP) was categorized as more advanced if there was no identifiable inner segment ellipsoid (ISe) band (NISE) and as less advanced if an ISe band could be identified and peripheral loss of ISe was apparent (IISE)...
November 2, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29097191/molecular-genetics-and-emerging-therapies-for-retinitis-pigmentosa-basic-research-and-clinical-perspectives
#16
REVIEW
Marina França Dias, Kwangsic Joo, Jessica A Kemp, Silvia Ligório Fialho, Armando da Silva Cunha, Se Joon Woo, Young Jik Kwon
Retinitis Pigmentosa (RP) is a hereditary retinopathy that affects about 2.5 million people worldwide. It is characterized with progressive loss of rods and cones and causes severe visual dysfunction and eventual blindness in bilateral eyes. In addition to more than 3000 genetic mutations from about 70 genes, a wide genetic overlap with other types of retinal dystrophies has been reported with RP. This diversity of genetic pathophysiology makes treatment extremely challenging. Although therapeutic attempts have been made using various pharmacologic agents (neurotrophic factors, antioxidants, and anti-apoptotic agents), most are not targeted to the fundamental cause of RP, and their clinical efficacy has not been clearly proven...
October 31, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29093021/the-rna-exosome-and-rna-exosome-linked-disease
#17
Derrick J Morton, Emily G Kuiper, Stephanie K Jones, Sara W Leung, Anita H Corbett, Milo B Fasken
The RNA exosome is an evolutionarily conserved, ribonuclease complex that is critical for both processing and degradation of a variety of RNAs. Cofactors that associate with the RNA exosome likely dictate substrate specificity for this complex. Recently, mutations in genes encoding both structural subunits of the RNA exosome and its cofactors have been linked to human disease. Mutations in the RNA exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1b) and type 1c (PCH1c), respectively, which are similar autosomal recessive, neurodegenerative diseases...
November 1, 2017: RNA
https://www.readbyqxmd.com/read/29082069/noninvasive-near-infrared-autofluorescence-imaging-of-retinal-pigment-epithelial-cells-in-the-human-retina-using-adaptive-optics
#18
Tao Liu, HaeWon Jung, Jianfei Liu, Michael Droettboom, Johnny Tam
The retinal pigment epithelial (RPE) cells contain intrinsic fluorophores that can be visualized using infrared autofluorescence (IRAF). Although IRAF is routinely utilized in the clinic for visualizing retinal health and disease, currently, it is not possible to discern cellular details using IRAF due to limits in resolution. We demonstrate that the combination of adaptive optics (AO) with IRAF (AO-IRAF) enables higher-resolution imaging of the IRAF signal, revealing the RPE mosaic in the living human eye...
October 1, 2017: Biomedical Optics Express
https://www.readbyqxmd.com/read/29079201/pdgf-c-and-pdgf-d-in-ocular-diseases
#19
REVIEW
Anil Kumar, Xuri Li
PDGFs and their receptors are critical regulators of numerous tissues and organs, including the eye. Extensive studies have shown that PDGFs and their receptors play critical roles in many ocular neovascular diseases, such as neovascular age-related macular degeneration, retinopathy of prematurity, and proliferative vitreoretinopathy. In addition, PDGFs and PDGFRs are also important players in ocular diseases involving the degeneration of retinal neuronal and vascular cells, such as glaucoma and retinitis pigmentosa...
October 24, 2017: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/29075762/temporal-properties-of-flicker-ergs-in-rabbit-model-of-retinitis-pigmentosa
#20
Satoshi Okado, Shinji Ueno, Taro Kominami, Ayami Nakanishi, Daiki Inooka, Akira Sayo, Mineo Kondo, Hiroko Terasaki
Purpose: We determined the effects of a remodeled inner retina on the flicker electroretinograms (ERGs) in a rabbit eye at an advanced stage of inherited retinal degeneration. Methods: Six wild-type (WT) and four rhodopsin P347L transgenic (Tg) rabbits were studied at 18 months of age. Flicker ERGs were elicited by sinusoidal stimuli at frequencies of 3.906 to 50.781 Hz. To block the ON and OFF retinal pathways, 2-amino-4-phosphonobutyric acid (APB), and 6-cyano-7-nitroquinoxaline-2, 3(1H, 4H)-dione (CNQX), respectively, were injected intravitreally...
October 1, 2017: Investigative Ophthalmology & Visual Science
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