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https://www.readbyqxmd.com/read/28448692/a-complex-homozygous-mutation-in-abhd12-responsible-for-pharc-syndrome-discovered-with-ngs-and-review-of-the-literature
#1
REVIEW
Justine Lerat, Pascal Cintas, Hélène Beauvais-Dzugan, Corinne Magdelaine, Franck Sturtz, Anne-Sophie Lia
PHARC syndrome (MIM612674) is an autosomal recessive neurodegenerative pathology that leads to demyelinating Polyneuropathy, Hearing loss, cerebellar Ataxia, Retinitis pigmentosa, and early-onset Cataracts (PHARC). These various symptoms can appear at different ages. PHARC syndrome is caused by mutations in ABHD12 (α-β Hydrolase Domain 12), of which several have been described. We report here a new complex homozygous mutation c.379_385delAACTACTinsGATTCCTTATATACCATTGTAGTCTTACTGCTTTTGGTGAACACA (p.Asn127Aspfs*23)...
April 27, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28447270/annual-incidences-of-visual-impairment-during-10-year-period-in-mie-prefecture-japan
#2
Kengo Ikesugi, Takako Ichio, Hideyuki Tsukitome, Mineo Kondo
PURPOSE: To determine the annual incidence of visual impairment in a Japanese population during a 10-year period. METHODS: We examined the physical disability certificates issued yearly between 2004 and 2013 in Mie prefecture, Japan. During this period 2468 visually impaired people were registered under the newly defined Act on Welfare of the Physically Disabled Persons' criteria. The age, sex distribution, and causes of visual impairment were determined from the certificates...
April 26, 2017: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28444310/arl3-and-rp2-regulate-the-trafficking-of-ciliary-tip-kinesins
#3
Nele Schwarz, Amelia Lane, Katarina Jovanovich, David A Parfitt, Monica Aguila, Clare L Thompson, Lyndon da Cruz, Peter J Coffey, J Paul Chapple, Alison J Hardcastle, Michael E Cheetham
Ciliary trafficking defects are the underlying cause of many ciliopathies, including Retinitis Pigmentosa (RP). Anterograde intraflagellar transport (IFT) is mediated by kinesin motor proteins; however, the function of the homodimeric Kif17 motor in cilia is poorly understood, whereas Kif7 is known to play an important role in stabilising cilia tips. Here we identified the ciliary tip kinesins Kif7 and Kif17 as novel interaction partners of the small GTPase Arl3 and its regulatory GTPase activating protein (GAP) Retinitis Pigmentosa 2 (RP2)...
April 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28442884/cone-dystrophy-or-macular-dystrophy-associated-with-novel-autosomal-dominant-guca1a-mutations
#4
Gaël Manes, Sonia Mamouni, Emilie Hérald, Anne-Claire Richard, Audrey Sénéchal, Karim Aouad, Béatrice Bocquet, Isabelle Meunier, Christian P Hamel
PURPOSE: Sixteen different mutations in the guanylate cyclase activator 1A gene (GUCA1A), have been previously identified to cause autosomal dominant cone dystrophy (adCOD), cone-rod dystrophy (adCORD), macular dystrophy (adMD), and in an isolated patient, retinitis pigmentosa (RP). The purpose of this study is to report on two novel mutations and the patients' clinical features. METHODS: Clinical investigations included visual acuity and visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging, and full-field and multifocal electroretinogram (ERG) recordings...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28442542/missense-mutations-in-the-wd40-domain-of-ahi1-cause-non-syndromic-retinitis-pigmentosa
#5
Thanh-Minh T Nguyen, Sarah Hull, Ronald Roepman, L Ingeborgh van den Born, Machteld M Oud, Erik de Vrieze, Lisette Hetterschijt, Stef J F Letteboer, Sylvia E C van Beersum, Ellen A Blokland, Helger G Yntema, Frans P M Cremers, Paul A van der Zwaag, Gavin Arno, Erwin van Wijk, Andrew R Webster, Lonneke Haer-Wigman
BACKGROUND: Recent findings suggesting that Abelson helper integration site 1 (AHI1) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense variants was uncertain. We assessed whether AHI1 variants cause non-syndromic retinitis pigmentosa (RP). METHODS: Exome sequencing was performed in three probands with RP. The effects of the identified missense variants in AHI1 were predicted by three-dimensional structure homology modelling...
April 25, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28441076/a-novel-neuroprotective-small-molecule-for-glial-cell-derived-neurotrophic-factor-induction-and-photoreceptor-rescue
#6
Petr Baranov, Hong Lin, Kathryn McCabe, David Gale, Shenshen Cai, Burke Lieppman, Dwight Morrow, Phoebe Lei, Justin Liao, Michael Young
PURPOSE: Degenerative diseases of the retina, such as retinitis pigmentosa and age-related macular degeneration, are characterized by the irreversible loss of photoreceptors. Several growth factors, including glial cell derived neurotrophic factor (GDNF), have been shown to rescue retinal neurons. An alternative strategy to direct GDNF administration is its induction in host retina by small molecules. Here we studied the ability of a novel small molecule GSK812 to induce GDNF in vitro/in vivo and rescue photoreceptors...
April 25, 2017: Journal of Ocular Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28430325/identification-of-a-disease-causing-mutation-in-a-chinese-patient-with-retinitis-pigmentosa-by-targeted-next-generation-sequencing
#7
Jianping Xiao, Xueqin Guo, Yong Wang, Mingkun Shao, Xiaoming Wei, Lique Du, Long Li, Yan Sun, Yun Yang
PURPOSE: To identify disease-causing mutations in a Chinese patient with retinitis pigmentosa (RP). METHODS: A detailed clinical examination was performed on the proband. Targeted next-generation sequencing (NGS) combined with bioinformatics analysis was performed on the proband to detect candidate disease-causing mutations. Sanger sequencing was performed on all subjects to confirm the candidate mutations and assess cosegregation within the family. RESULTS: Clinical examinations of the proband showed typical characteristics of RP...
April 14, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28429669/what-can-pharmacological-models-of-retinal-degeneration-tell-us
#8
M H Reisenhofer, J Balmer, V Enzmann
Animal models with pharmacologically induced retinal degeneration including sodium iodate (NaIO3) and N-methyl-N-nitrosourea (MNU) have been extensively used in ophthalmic research to investigate retinal degeneration. NaIO3 induces degeneration of the retinal pigment epithelium (RPE) followed by photoreceptor (PRC) cell death, mimicking features of age-related macular degeneration. In contrast, MNU leads to rapid destruction of the PRCs only, enabling the use of the MNU model to investigate degeneration induced in retinitis pigmentosa...
March 31, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28425969/the-pharmacological-effects-of-lutein-and-zeaxanthin-on-visual-disorders-and-cognition-diseases
#9
REVIEW
Yu-Ping Jia, Lei Sun, He-Shui Yu, Li-Peng Liang, Wei Li, Hui Ding, Xin-Bo Song, Li-Juan Zhang
Lutein (L) and zeaxanthin (Z) are dietary carotenoids derived from dark green leafy vegetables, orange and yellow fruits that form the macular pigment of the human eyes. It was hypothesized that they protect against visual disorders and cognition diseases, such as age-related macular degeneration (AMD), age-related cataract (ARC), cognition diseases, ischemic/hypoxia induced retinopathy, light damage of the retina, retinitis pigmentosa, retinal detachment, uveitis and diabetic retinopathy. The mechanism by which they are involved in the prevention of eye diseases may be due their physical blue light filtration properties and local antioxidant activity...
April 20, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28424578/the-crb1-complex-following-the-trail-of-crumbs-to-a-feasible-gene-therapy-strategy
#10
REVIEW
Peter M Quinn, Lucie P Pellissier, Jan Wijnholds
Once considered science fiction, gene therapy is rapidly becoming scientific reality, targeting a growing number of the approximately 250 genes linked to hereditary retinal disorders such as retinitis pigmentosa and Leber's congenital amaurosis. Powerful new technologies have emerged, leading to the development of humanized models for testing and screening these therapies, bringing us closer to the goal of personalized medicine. These tools include the ability to differentiate human induced pluripotent stem cells (iPSCs) to create a "retina-in-a-dish" model and the self-formed ectodermal autonomous multi-zone, which can mimic whole eye development...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28424296/cell-type-specific-changes-in-retinal-ganglion-cell-function-induced-by-rod-death-and-cone-reorganization-in-rats
#11
Wan-Qing Yu, Norberto M Grzywacz, Eun-Jin Lee, Greg D Field
We have determined the impact of rod death and cone reorganization on the spatiotemporal receptive fields (RFs) and spontaneous activity of distinct RGC types.  We compared RGC function between healthy and retinitis pigmentosa (RP) model rats (S334ter-3) at a time when nearly all rods were lost, but cones remained. This allowed us to determine the impact of rod death on cone-mediated visual signaling -- a relevant time point because the diagnosis of RP frequently occurs when patients are night-blind, but daytime vision persists...
April 19, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28419563/whole-exome-sequencing-identified-a-novel-single-base-pair-insertion-mutation-in-the-eys-gene-in-a-six-generation-family-with-retinitis-pigmentosa
#12
Jamil Amjad Hashmi, Maan Abdullah Albarry, Ahmed Almatrafi, Alia M Albalawi, Amir Mehmood, Sulman Basit
Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) and is characterized by photoreceptor degeneration. RP is clinically and genetically heterogeneous disorder. More than 70 genes are known and, thus, identification of causative genes and mutations in known genes is challenging. This study was designed to identify the underlying genetic defect in a large extended Saudi family with multiple RP affected members. Fundus photography, Optical Coherence Tomography (OCT) and visual field perimetry were performed for affected individuals...
April 16, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28419400/a-nine-year-follow-up-of-macular-complications-in-retinitis-pigmentosa-and-diabetes-mellitus
#13
Dario Pasquale Mucciolo, Andrea Sodi, Vittoria Murro, Gianni Virgili, Stanislao Rizzo
The authors report a 9-year follow-up of macular complications in a 66-year-old woman affected with retinitis pigmentosa (RP) and type 2 diabetes mellitus. Rarely, clinical signs of diabetic retinopathy are presented in a patient with retinal dystrophy. This patient developed a bilateral diabetic macular edema (DME), which made its management complex due to the multiple pathogenic processes involved. Despite the chronicity of the DME, visual acuity remained stable without therapy. To the authors' knowledge, this is the first report of DME in RP with such a long follow-up...
April 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28415701/wogonin-induces-retinal-neuron-like-differentiation-of-bone-marrow-stem-cells-by-inhibiting-notch-1-signaling
#14
Qinmeng Shu, Hong Zhuang, Jiawen Fan, Xin Wang, Gezhi Xu
Age-related macular degeneration and retinitis pigmentosa are major causes of irreversible vision loss in the elderly and, despite sustained efforts, current treatments are largely ineffective. Wogonin is a bioactive plant flavonoid possessing a range of beneficial properties, including neuroprotective effects. We investigated the ability of wogonin to promote retinal neuron-like differentiation of bone marrow stem cells (BMSCs) and assessed the involvement of Notch-1 signaling in this process. Cultured mouse BMSCs were left untreated or exposed to neurotrophic factors in the presence or absence of wogonin, and western blotting, RT-PCR and immunofluorescence were used to identify changes in molecular markers of stemness and neuroretinal differentiation...
March 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28413652/bilateral-blindness-with-secondary-retinitis-pigmentosa-following-postoperative-docetaxel-and-platinum-combination-chemotherapy-in-primary-small-cell-carcinoma-of-the-endometrium-an-unusual-case-report-and-review-of-the-literature
#15
Qiong-Lan Tang, Jia Liu, Li Zuo, Cong Chi, Hui-Yu Dong, Xiao-Xia Jiang, Xue-Feng Jiang
Ocular toxicity is an uncommon complication of cytotoxic chemotherapy. Bilateral blindness with secondary retinitis pigmentosa (RP) following docetaxel and platinum combination chemotherapy at the recommended dose is extremely rare. The present study reports a case of advanced small-cell carcinoma (SCC) of the endometrium in a patient with diabetes mellitus type 2. The patient suffered from RP with a sharp decline in vision after the fourth course of postoperative docetaxel and platinum combination chemotherapy...
April 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28412069/whole-exome-sequencing-identifies-biallelic-idh3a-variants-as-a-cause-of-retinitis-pigmentosa-accompanied-by-pseudocoloboma
#16
Laurence H M Pierrache, Adva Kimchi, Rinki Ratnapriya, Lisa Roberts, Galuh D N Astuti, Alexey Obolensky, Avigail Beryozkin, Martha J H Tjon-Fo-Sang, Jose Schuil, Caroline C W Klaver, Ernie M H F Bongers, Lonneke Haer-Wigman, Nicoline Schalij, Martijn H Breuning, Gratia M Fischer, Eyal Banin, Raj S Ramesar, Anand Swaroop, L Ingeborgh van den Born, Dror Sharon, Frans P M Cremers
PURPOSE: To identify the genetic cause of and describe the phenotype in 4 families with autosomal recessive retinitis pigmentosa (arRP) that can be associated with pseudocoloboma. DESIGN: Case series. PARTICIPANTS: Seven patients from 4 unrelated families with arRP, among whom 3 patients had bilateral early-onset macular pseudocoloboma. METHODS: We performed homozygosity mapping and whole-exome sequencing in 5 probands and 2 unaffected family members from 4 unrelated families...
April 12, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28409209/2-acetyl-5-tetrahydroxybutyl-imidazole-thi-protects-661w-cells-against-oxidative-stress
#17
Carlotta Fabiani, Aida Zulueta, Fabiola Bonezzi, Josefina Casas, Riccardo Ghidoni, Paola Signorelli, Anna Caretti
Retinal degeneration and in particular retinitis pigmentosa (RP) is associated to ceramide (Cer) accumulation and cell death induction. Cer and sphingosine-1-phosphate (S1P) belong to the sphingolipids class and exert a pro-apoptotic and pro-survival activity, respectively. Our aim is to target sphingolipid metabolism by inhibiting S1P lyase that regulates one of the S1P degradation pathways, to reduce retinal photoreceptor damage. The murine 661W cone-like cell line was pretreated with THI, an inhibitor of S1P lyase and exposed to H2O2-induced oxidative stress...
April 13, 2017: Naunyn-Schmiedeberg's Archives of Pharmacology
https://www.readbyqxmd.com/read/28406473/restoring-visual-function-to-the-blind-retina-with-a-potent-safe-and-long-lasting-photoswitch
#18
Ivan Tochitsky, Jay Trautman, Nicholas Gallerani, Jonatan G Malis, Richard H Kramer
Photoswitch compounds such as DENAQ confer light-sensitivity on endogenous neuronal ion channels, enabling photocontrol of neuronal activity without genetic manipulation. DENAQ treatment restores both retinal light responses and visual behaviors in rodent models of Retinitis pigmentosa. However, retinal photosensitization requires a high dose of DENAQ and disappears within several days after treatment. Here we report that BENAQ, an improved photoswitch, is 20-fold more potent than DENAQ and persists in restoring visual responses to the retina for almost 1 month after a single intraocular injection...
April 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28406171/optical-coherence-tomography-angiography-to-estimate-retinal-blood-flow-in-eyes-with-retinitis-pigmentosa
#19
Masako Sugahara, Manabu Miyata, Kenji Ishihara, Norimoto Gotoh, Satoshi Morooka, Ken Ogino, Tomoko Hasegawa, Takako Hirashima, Munemitsu Yoshikawa, Masayuki Hata, Yuki Muraoka, Sotaro Ooto, Kenji Yamashiro, Nagahisa Yoshimura
Ophthalmologists sometimes face difficulties in identifying the origin of visual acuity (VA) loss in a retinitis pigmentosa (RP) patient, particularly before cataract surgery: cataract or the retinal disease state. Therefore, it is important to identify the significant factors correlating with VA. Nowadays, retinal blood flow in superficial and deep layers can be estimated non-invasively using optical coherence tomography angiography (OCTA). We estimated blood flow per retinal layer by using OCTA; investigated the correlation between VA and other parameters including blood flow and retinal thickness; and identified the most associated factor with VA in patients with RP...
April 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28404878/activation-of-liver-x-receptor-delayed-the-retinal-degeneration-of-rd1-mice-through-modulation-of-the-immunological-function-of-glia
#20
Xiao He, Dayu Sun, Siyu Chen, Haiwei Xu
Retinal degeneration (RD), including retinitis pigmentosa (RP), is an inherited eye disease characterized by progressive degeneration of photoreceptors. Recently, immune cells, including microglia, Müller cells and astrocytes, in degenerative retina are demonstrated to play key roles in the development of RD and can be used as potential therapeutic targets. Liver X receptors (LXRs) are important immuno-inflammatory response transcription factors that have been reported to be a new potential therapeutic drug target for neurodegenerative diseases...
March 29, 2017: Oncotarget
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