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Cone rod dystrophie

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https://www.readbyqxmd.com/read/29427171/co2-bicarbonate-modulates-cone-photoreceptor-ros-gc1-and-restores-its-cord6-linked-catalytic-activity
#1
Teresa Duda, Alexander Pertzev, Rameshwar K Sharma
This study with recombinant reconstituted system mimicking the cellular conditions of the native cones documents that photoreceptor ROS-GC1 is modulated by gaseous CO2. Mechanistically, CO2 is sensed by carbonic anhydrase (CAII), generates bicarbonate that, in turn, directly targets the core catalytic domain of ROS-GC1, and activates it to increased synthesis of cyclic GMP. This, then, functions as a second messenger for the cone phototransduction. The study demonstrates that, in contrast to the Ca2+-modulated phototransduction, the CO2 pathway is Ca2+-independent, yet is linked with it and synergizes it...
February 9, 2018: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/29427104/molecular-mechanisms-and-therapeutic-strategies-in-spinocerebellar-ataxia-type-7
#2
Alice Karam, Yvon Trottier
Spinocerebellar Ataxia type 7 (SCA7, OMIM # 164500) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia and blindness. SCA7 is part of the large family of autosomal dominant cerebellar ataxias (ADCAs), and was estimated to account for 1-11.7% of ADCAs in diverse populations. The frequency of SCA7 is higher where local founder effects were observed as in Scandinavia, Korea, South Africa and Mexico. SCA7 is pathomechanistically related to the group of CAG/polyglutamine (polyQ) expansion disorders, which includes other SCAs (1-3, 6 and 17), Huntington's disease, spinal bulbar muscular atrophy and dentatorubro pallidoluysian atrophy...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29422768/retinal-phenotypic-characterization-of-patients-with-abca4-retinopathydue-to-the-homozygous-p-ala1773val-mutation
#3
Salvador López-Rubio, Oscar F Chacon-Camacho, Rodrigo Matsui, Dalia Guadarrama-Vallejo, Mirena C Astiazarán, Juan C Zenteno
Purpose: To describe the retinal clinical features of a group of Mexican patients with Stargardt disease carrying the uncommon p.Ala1773Val founder mutation in ABCA4. Methods: Ten patients carrying the p.Ala1773Val mutation, nine of them homozygously, were included. Visual function studies included best-corrected visual acuity, electroretinography, Goldmann kinetic visual fields, and full-field electroretinography (ERG). In addition, imaging studies, such as optical coherence tomography (OCT), short-wave autofluorescence imaging, and quantitative analyses of hypofluorescence, were performed in each patient...
2018: Molecular Vision
https://www.readbyqxmd.com/read/29421294/jalili-syndrome-cross-sectional-and-longitudinal-features-of-seven-patients-with-cone-rod-dystrophy-and-amelogenesis-imperfecta
#4
Nashila Hirji, Patrick D Bradley, Shuning Li, Ajoy Vincent, Mark E Pennesi, Akshay S Thomas, Elise Heon, Aparna Bhan, Omar A Mahroo, Anthony Robson, Chris F Inglehearn, Anthony T Moore, Michel Michaelides
No abstract text is available yet for this article.
February 5, 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29386879/full-field-erg-as-a-predictor-of-the-natural-course-of-abca4-associated-retinal-degenerations
#5
Marion Schroeder, Ulrika Kjellström
Purpose: To assess retinal function in combination with the retinal structure in ABCA4-associated retinal degenerations. Moreover, to evaluate the possibility of predicting the natural course of these disorders. Methods: 34 patients with Stargardt disease or cone rod dystrophy carrying confirmed mutations in ABCA4 were selected from our retinitis pigmentosa (RP) register. Sequence analysis of the entire coding region of the ABCA4 gene was performed. The patients were subdivided into three groups based on their most recent visual fields...
2018: Molecular Vision
https://www.readbyqxmd.com/read/29377742/novel-compound-heterozygous-mutation-in-the-poc1b-gene-underlie-peripheral-cone-dystrophy-in-a-chinese-family
#6
Xin Jin, Lanlan Chen, Dajiang Wang, Yixin Zhang, Zehua Chen, Houbin Huang
PURPOSE: To describe the clinical characteristics of a Chinese family with peripheral cone dystrophy (PCD) and identify the gene mutations causing PCD. METHODS: The Chinese PCD pedigree underwent comprehensive ophthalmic examinations, including visual acuity, slit lamp examination, fundoscopy, visual field examination, autofluorescence, fluorescence fundus angiography and indocyanine green angiography, full-field electroretinograms, and spectral-domain optical coherence tomography...
January 29, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29370033/autosomal-dominant-vitreoretinochoroidopathy-when-molecular-genetic-testing-helps-clinical-diagnosis
#7
Elise Boulanger-Scemama, Jose-Alain Sahel, Saddek Mohand-Said, Aline Antonio, Christel Condroyer, Christina Zeitz, Isabelle Audo
PURPOSE: Autosomal dominant vitreoretinochoroidopathy is an extremely rare disease, which belongs to the BEST1-related disease spectrum. METHODS: Report of five patients with an initial diagnosis of atypical rod-cone dystrophy, for whom autosomal dominant vitreoretinochoroidopathy was retrospectively diagnosed on genetic results using targeted next-generation sequencing. Each patient had a comprehensive ophthalmic examination including multimodal retinal imaging and functional evaluation...
January 23, 2018: Retina
https://www.readbyqxmd.com/read/29367880/cytogenomic-identification-and-long-read-single-molecule-real-time-smrt-sequencing-of-a-bardet-biedl-syndrome-9-bbs9-deletion
#8
Jennifer Reiner, Laura Pisani, Wanqiong Qiao, Ram Singh, Yao Yang, Lisong Shi, Wahab A Khan, Robert Sebra, Ninette Cohen, Arvind Babu, Lisa Edelmann, Ethylin Wang Jabs, Stuart A Scott
Bardet-Biedl syndrome (BBS) is a recessive disorder characterized by heterogeneous clinical manifestations, including truncal obesity, rod-cone dystrophy, renal anomalies, postaxial polydactyly, and variable developmental delays. At least 20 genes have been implicated in BBS, and all are involved in primary cilia function. We report a 1-year-old male child from Guyana with obesity, postaxial polydactyly on his right foot, hypotonia, ophthalmologic abnormalities, and developmental delay, which together indicated a clinical diagnosis of BBS...
2018: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/29342012/diffuse-chorioretinopathy-without-serous-detachment-associated-with-cardiac-transplantation
#9
Michael F Marmor
PURPOSE: To analyze an unusual case of widespread chorioretinopathy after cardiac transplantation for its potential etiology and clinical significance. METHODS: Clinical examinations included widefield and macular color and fundus autofluorescence photography, spectral domain optical coherence tomography, fluorescein angiography and indocyanine green angiography, full-field electroretinography, and Goldmann visual fields. PATIENT: A 44-year-old Hispanic woman was referred to rule out retinitis pigmentosa...
January 16, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29332120/severe-loss-of-tritan-color-discrimination-in-rpe65-associated-leber-congenital-amaurosis
#10
Neruban Kumaran, Caterina Ripamonti, Angelos Kalitzeos, Gary S Rubin, James W B Bainbridge, Michel Michaelides
Purpose: RPE65-associated Leber congenital amaurosis (RPE65-LCA) is a progressive severe retinal dystrophy with early profound dysfunction of rod photoreceptors followed by progressive cone photoreceptor degeneration. We aim to provide detailed information about how cone dysfunction affects color discrimination. Methods: Seven adults (aged 16-21) with RPE65-LCA underwent monocular color discrimination assessment using the Trivector and Ellipse versions of three computerized tests: Cambridge Colour Test (CCT), low vision version of the Cambridge Colour Test (lvvCCT), and the Universal Colour Discrimination Test (UCDT)...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29295858/hif-1%C3%AE-stabilization-reduces-retinal-degeneration-in-a-mouse-model-of-retinitis-pigmentosa
#11
Lorena Olivares-González, Cristina Martínez-Fernández de la Cámara, David Hervás, José María Millán, Regina Rodrigo
Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by progressive and irreversible loss of vision due to rod and cone degeneration. Evidence suggests that an inappropriate oxygen level could contribute to its pathogenesis. Rod cell death could increase oxygen concentration, reduce hypoxia-inducible factor 1 (HIF-1α) and contribute to cone cell death. The purposes of this study were: 1) to analyze the temporal profile of HIF-1α, its downstream effectors VEGF, endothelin-1 (ET-1), iNOS, and glucose transporter 1 (GLUT1), and neuroinflammation in retinas of the murine model of rd10 (retinal degeneration 10) mice with RP; 2) to study oxygen bioavailability in these retinas; and 3) to investigate how stabilizing HIF-1α proteins with dimethyloxaloglycine (DMOG), a prolyl hydroxylase inhibitor, affects retinal degeneration, neuroinflammation, and antioxidant response in rd10 mice...
January 2, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29248324/lethal-form-of-spinocerebellar-ataxia-type-7-with-early-onset-in-childhood
#12
G Gousse, H Patural, R Touraine, S Chabrier, E Rolland, J-C Antoine, L Perrin
Progressive cerebellar ataxias are well-known hereditary neurological disorders. Among them, spinocerebellar ataxia type 7 (SCA7) is inherited as an autosomal dominant trait and is ascribed to the expansion of a CAG trinucleotide repeat within the ATXN7 gene. An anticipation phenomenon can occur during paternal transmission and sometimes is responsible for a severe infantile form. The specificity of SCA7 is the retinal involvement with retinitis pigmentosa and cone rod dystrophy. We describe a familial form with two siblings who died of a severe infantile form...
December 13, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29212538/a-pilot-investigation-of-audiovisual-processing-and-multisensory-integration-in-patients-with-inherited-retinal-dystrophies
#13
Mark H Myers, Alessandro Iannaccone, Gavin M Bidelman
BACKGROUND: In this study, we examined audiovisual (AV) processing in normal and visually impaired individuals who exhibit partial loss of vision due to inherited retinal dystrophies (IRDs). METHODS: Two groups were analyzed for this pilot study: Group 1 was composed of IRD participants: two with autosomal dominant retinitis pigmentosa (RP), two with autosomal recessive cone-rod dystrophy (CORD), and two with the related complex disorder, Bardet-Biedl syndrome (BBS); Group 2 was composed of 15 non-IRD participants (controls)...
December 7, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29210963/central-ellipsoid-loss-associated-with-cone-dystrophy-and-kcnv2-mutation
#14
David Xu, Daniel Su, Steven Nusinowitz, David Sarraf
PURPOSE: To report a case of central ellipsoid loss with supernormal rod electroretinogram and KCNV2 gene mutation. METHODS: Retrospective case report. PATIENT: Thirty-eight-year-old man. RESULTS: We report a patient with longstanding vision loss and photophobia who illustrated central atrophy of the inner segment ellipsoid zone band on spectral domain optical coherence tomography. Fundus autofluorescence displayed mild perifoveal mottled autofluorescence...
November 23, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29210962/long-term-multimodal-imaging-of-ocular-findings-associated-with-thiamine-responsive-megaloblastic-anemia
#15
Edmund Tsui, Jenna Tauber, Irene Barbazetto, Susan K Gelman
PURPOSE: To report on 5-year multimodal imaging of ocular findings in a patient with thiamine-responsive megaloblastic anemia. METHODS: Observational case report. RESULTS: A 20-year-old-man with a history of thiamine-responsive megaloblastic anemia demonstrated a symmetric bull's eye maculopathy. Spectral domain optical coherence tomography revealed disruption of the parafoveal ellipsoid zone, fundus autofluorescence demonstrated foveal hypoautofluorescence, and full-field electroretinogram testing revealed a decreased photopic and scotopic response consistent with cone-rod dystrophy...
November 23, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29204067/heterozygous-mutation-in-otx2-associated-with-early-onset-retinal-dystrophy-with-atypical-maculopathy
#16
Maram Ea Abdalla-Elsayed, Patrik Schatz, Christine Neuhaus, Arif O Khan
Purpose: Heterozygous mutations in OTX2 have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in OTX2 underlying early-onset retinal dystrophy with atypical maculopathy. Methods: Clinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a panel of retinal dystrophy genes. Results: A now 17-year-old boy presented 12 years earlier with a history of progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy...
2017: Molecular Vision
https://www.readbyqxmd.com/read/29203866/rpgrip1-is-required-for-rod-outer-segment-development-and-ciliary-protein-trafficking-in-zebrafish
#17
Rakesh K Raghupathy, Xun Zhang, Fei Liu, Reem H Alhasani, Lincoln Biswas, Saeed Akhtar, Luyuan Pan, Cecilia B Moens, Wenchang Li, Mugen Liu, Breandan N Kennedy, Xinhua Shu
Mutations in the RPGR-interacting protein 1 (RPGRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and cone-rod dystrophy. RPGRIP1 interacts with other retinal disease-causing proteins and has been proposed to have a role in ciliary protein transport; however, its function remains elusive. Here, we describe a new zebrafish model carrying a nonsense mutation in the rpgrip1 gene. Rpgrip1homozygous mutants do not form rod outer segments and display mislocalization of rhodopsin, suggesting a role for RPGRIP1 in rhodopsin-bearing vesicle trafficking...
December 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29200130/diffuse-retinal-vascular-leakage-and-cone-rod-dystrophy-in-a-family-with-the-homozygous-missense-c-1429g-a-p-gly477arg-mutation-in-crb1
#18
Hamed Al Sulaiman, Patrik Schatz, Sawsan R Nowilaty, Ehab Abdelkader, Leen Abu Safieh
PURPOSE: To describe a specific cone-rod dystrophy phenotype in a family with the homozygous c.1429G>A; p.Gly477Arg mutation in CRB1. The detailed phenotype of subjects with this specific mutation has not been described previously. METHODS: Clinical examination included full-field electroretinography and high-resolution and widefield retinal imaging and uveitis workup. Molecular genetic analysis included next-generation sequencing of known retinal dystrophy genes and Sanger sequencing for segregation analysis...
December 1, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29198644/the-diagnostic-usefulness-of-the-negative-electroretinogram
#19
C Fuente García, J J González-López, F J Muñoz-Negrete, G Rebolleda
The definition of the negative response of the full field electroretinogram is the presence of a b-wave with less amplitude than the a-wave (b/a ratio<1) in the combined response of cones and rods. The presence of this pattern reflects an alteration in the bipolar cells, the Müller cells, or in the transmission of the stimulus from the photoreceptors to the bipolar cells, with preserved photoreceptor function. This finding can be seen bilaterally and symmetrically in different hereditary conditions, such as congenital stationary night blindness, juvenile X-linked retinoschisis, and Duchenne and Becker muscular dystrophies...
November 30, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/29193673/ophthalmic-features-of-cone-rod-dystrophy-caused-by-pathogenic-variants-in-the-alms1-gene
#20
Fadi Nasser, Nicole Weisschuh, Pietro Maffei, Gabriella Milan, Corina Heller, Eberhart Zrenner, Susanne Kohl, Laura Kuehlewein
PURPOSE: We aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone-rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene. METHODS: Seven patients with Alström syndrome (ALMS) were included in the study. A comprehensive ophthalmological examination was performed, including best-corrected visual acuity (BCVA), a semiautomated kinetic visual field exam, colour vision testing, full-field electroretinography testing according to International Society for Clinical Electrophysiology of Vision (ISCEV) standards, spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) imaging, and slit lamp and dilated fundus examination...
November 30, 2017: Acta Ophthalmologica
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