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Cone rod dystrophie

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https://www.readbyqxmd.com/read/29671671/progressive-expansion-of-the-hyperautofluorescent-ring-in-cone-rod-dystrophy-patients
#1
Luiz H Lima, Claudio Zett, Vinícius Kniggendorf, Bruna Marianelli, Ricardo A P de Carvalho, Michel E Farah, Juliana M F Sallum
PURPOSE: To evaluate the expansion of the hyperautofluorescent ring and the retinal structure changes over time in cone-rod dystrophy (CRD) patients, using fundus autofluorescence (FAF) and spectral-domain optical coherence tomography (SD-OCT). METHODS: Retrospective case series study. Six eyes of three CRD patients with a parafoveal hyperautofluorescent ring were studied. The diagnosis of CRD was established by the presence of the implicit time shift at 30-Hz flicker and prevalent decrease of photopic over scotopic responses on electroretinography...
April 19, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29666392/synthetic-9-cis-beta-carotene-inhibits-photoreceptor-degeneration-in-cultures-of-eye-cups-from-rpe65rd12-mouse-model-of-retinoid-cycle-defect
#2
Ifat Sher, Adi Tzameret, Sara Peri-Chen, Victoria Edelshtain, Michael Ioffe, Alon Sayer, Ludmila Buzhansky, Ehud Gazit, Ygal Rotenstreich
The retinoid cycle enzymes regenerate the visual chromophore 11-cis retinal to enable vision. Mutations in the genes encoding the proteins of the retinoid cycle are the leading cause for recessively inherited retinal dystrophies such as retinitis pigmentosa, Leber congenital amaurosis, congenital cone-rod dystrophy and fundus albipunctatus. Currently there is no treatment for these blinding diseases. In previous studies we demonstrated that oral treatment with the 9-cis-β-carotene rich Dunaliella Bardawil algae powder significantly improved visual and retinal functions in patients with retinitis pigmentosa and fundus albipunctatus...
April 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29659094/mertk-mutations-update-in-inherited-retinal-diseases
#3
Isabelle Audo, Saddek Mohand-Said, Elise Boulanger-Scemama, Xavier Zanlonghi, Christel Condroyer, Vanessa Démontant, Fiona Boyard, Aline Antonio, Cécile Méjécase, Said El Shamieh, José-Alain Sahel, Christina Zeitz
MER tyrosine kinase (MERTK) encodes a surface receptor localized at the apical membrane of the retinal pigment epithelium. It plays a critical role in photoreceptor outer segment internalization prior to phagocytosis. Mutations in MERTK have been associated with severe autosomal recessive retinal dystrophies in the RCS rat and in humans. We present here a comprehensive review of all reported MERTK disease causing variants with the associated phenotype. In addition, we provide further data and insights of a large cohort of 1195 inherited retinal dystrophies (IRD) index cases applying state-of-the-art genotyping techniques and summarize current knowledge...
April 16, 2018: Human Mutation
https://www.readbyqxmd.com/read/29643798/rapid-capsular-contraction-with-secondary-intraocular-lens-dislocation-associated-with-unspecified-rod-cone-dystrophy-a-case-report
#4
Jocelyn Lam, Bradley Sifrig, Hoon Jung
Purpose: We report an unusual case of rapid and severe anterior capsular contraction associated with secondary intraocular lens (IOL) dislocation following cataract surgery in a patient with unspecified rod-cone dystrophy. Case Report: A 68-year-old woman with a history of uncharacterized bilateral rod-cone dystrophy presented with blurry vision 1 month after cataract surgery. Best corrected visual acuity was 20/40 in the operative eye. Slit-lamp exam showed severe anterior capsular phimosis limiting view of the fundus...
January 2018: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/29597005/non-syndromic-retinitis-pigmentosa
#5
REVIEW
Sanne K Verbakel, Ramon A C van Huet, Camiel J F Boon, Anneke I den Hollander, Rob W J Collin, Caroline C W Klaver, Carel B Hoyng, Ronald Roepman, B Jeroen Klevering
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP cases are non-syndromic, 20-30% of patients with RP also have an associated non-ocular condition. RP typically manifests with night blindness in adolescence, followed by concentric visual field loss, reflecting the principal dysfunction of rod photoreceptors; central vision loss occurs later in life due to cone dysfunction...
March 26, 2018: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29559409/expanded-retinal-disease-spectrum-associated-with-autosomal-recessive-mutations-in-gucy2d
#6
Maria L Stunkel, Scott E Brodie, Artur V Cideciyan, Wanda L Pfeifer, Elizabeth L Kennedy, Edwin M Stone, Samuel G Jacobson, Arlene V Drack
PURPOSE: GUCY2D has been associated with autosomal recessive Leber Congenital Amaurosis and autosomal dominant cone-rod dystrophy. This report expands the phenotype of autosomal recessive mutations to congenital night blindness which may slowly progress to retinitis pigmentosa. DESIGN: Retrospective case series. METHODS: Multicenter study of five patients (3 male, 2 female). RESULTS: All presented with night blindness since childhood...
March 17, 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29555955/clinical-and-genetic-characteristics-of-251-consecutive-patients-with-macular-and-cone-cone-rod-dystrophy
#7
Johannes Birtel, Tobias Eisenberger, Martin Gliem, Philipp L Müller, Philipp Herrmann, Christian Betz, Diana Zahnleiter, Christine Neuhaus, Steffen Lenzner, Frank G Holz, Elisabeth Mangold, Hanno J Bolz, Peter Charbel Issa
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in patient with retinitis pigmentosa, which shows similar genetic heterogeneity. To detect the genetic causes of disease in patients with MD/CCRD, we implemented a two-tier procedure consisting of Sanger sequencing and targeted NGS including genes associated with clinically overlapping conditions...
March 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29550188/a-distinct-phenotype-of-eyes-shut-homolog-eys-retinitis-pigmentosa-is-associated-with-variants-near-the-c-terminus
#8
Jesse D Sengillo, Winston Lee, Takayuki Nagasaki, Kaspar Schuerch, Lawrence A Yannuzzi, K Bailey Freund, Janet Sparrow, Rando Allikmets, Stephen H Tsang
PURPOSE: Mutations in the eyes shut homolog (EYS) gene are a frequent cause of autosomal recessive retinitis pigmentosa (arRP). This study used multi-modal retinal imaging to elucidate genotype-phenotype relationships in EYS-related RP (EYS-RP). DESIGN: Cross-sectional study. METHOD: Multimodal retinal imaging and electrophysiologic testing was assessed for 16 patients with genetic confirmation of EYS-RP. RESULTS: A total of 27 unique EYS variants were identified in 16 patients...
March 14, 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29528978/clinical-and-genetic-characteristics-of-male-patients-with-rpgr-associated-retinal-dystrophies-a-long-term-follow-up-study
#9
Mays Talib, Mary J van Schooneveld, Alberta A Thiadens, Marta Fiocco, Jan Wijnholds, Ralph J Florijn, Nicoline E Schalij-Delfos, Maria M van Genderen, Hein Putter, Frans P M Cremers, Gislin Dagnelie, Jacoline B Ten Brink, Caroline C W Klaver, L Ingeborgh van den Born, Carel B Hoyng, Arthur A Bergen, Camiel J F Boon
PURPOSE: To describe the phenotype and clinical course of patients with RPGR-associated retinal dystrophies, and to identify genotype-phenotype correlations. METHODS: A multicenter medical records review of 74 male patients with RPGR-associated retinal dystrophies. RESULTS: Patients had retinitis pigmentosa (RP; n = 52; 70%), cone dystrophy (COD; n = 5; 7%), or cone-rod dystrophy (CORD; n = 17; 23%). The median follow-up time was 11.6 years (range 0-57...
March 8, 2018: Retina
https://www.readbyqxmd.com/read/29508564/volumetric-imaging-of-rod-and-cone-photoreceptor-structure-with-a-combined-adaptive-optics-optical-coherence-tomography-scanning-laser-ophthalmoscope
#10
Elaine M Wells-Gray, Stacey S Choi, Robert J Zawadzki, Susanna C Finn, Cherry Greiner, John S Werner, Nathan Doble
We have designed and implemented a dual-mode adaptive optics (AO) imaging system that combines spectral domain optical coherence tomography (OCT) and scanning laser ophthalmoscopy (SLO) for in vivo imaging of the human retina. The system simultaneously acquires SLO frames and OCT B-scans at 60 Hz with an OCT volume acquisition time of 4.2 s. Transverse eye motion measured from the SLO is used to register the OCT B-scans to generate three-dimensional (3-D) volumes. Key optical design considerations include: minimizing system aberrations through the use of off-axis relay telescopes, conjugate pupil plane requirements, and the use of dichroic beam splitters to separate and recombine the OCT and SLO beams around the nonshared horizontal scanning mirrors...
March 2018: Journal of Biomedical Optics
https://www.readbyqxmd.com/read/29483285/heteromeric-k-v-2-k-v-8-2-channels-mediate-delayed-rectifier-potassium-currents-in-primate-photoreceptors
#11
Jacqueline Gayet-Primo, Daniel B Yaeger, Roupen A Khanjian, Teresa Puthussery
Silent voltage-gated potassium channel subunits (KV S) interact selectively with members of the KV 2 channel family to modify their functional properties. The localization and functional roles of these silent subunits remain poorly understood. Mutations in the KV S subunit, KV 8.2 ( KCNV2 ), lead to severe visual impairment in humans, but the basis of these deficits remain unclear. Here, we examined the localization, native interactions and functional properties of KV 8.2-containing channels in mouse, macaque and human photoreceptors of either sex...
February 24, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29457131/keeping-an-eye-on-bardet-biedl-syndrome-a-comprehensive-review-of-the-role-of-bardet-biedl-syndrome-genes-in-the-eye
#12
Katie Weihbrecht, Wesley A Goar, Thomas Pak, Janelle E Garrison, Adam P DeLuca, Edwin M Stone, Todd E Scheetz, Val C Sheffield
Upwards of 90% of individuals with Bardet-Biedl syndrome (BBS) display rod-cone dystrophy with early macular involvement. BBS is an autosomal recessive, genetically heterogeneous, pleiotropic ciliopathy for which 21 causative genes have been discovered to date. In addition to retinal degeneration, the cardinal features of BBS include obesity, cognitive impairment, renal anomalies, polydactyly, and hypogonadism. Here, we review the genes, proteins, and protein complexes involved in BBS and the BBS model organisms available for the study of retinal degeneration...
September 2017: Medical Research Archives
https://www.readbyqxmd.com/read/29427171/co2-bicarbonate-modulates-cone-photoreceptor-ros-gc1-and-restores-its-cord6-linked-catalytic-activity
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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