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https://www.readbyqxmd.com/read/28225724/outer-retinal-tubulation-in-retinal-dystrophies
#1
Imoro Z Braimah, Sunila Dumpala, Jay Chhablani
BACKGROUND/PURPOSE: To evaluate the occurrence and characteristics of outer retinal tubulation (ORT) in an Indian population with retinal dystrophies. METHODS: In this retrospective study, 309 eyes of 157 patients with retinal dystrophies including retinitis pigmentosa (RP, 183 eyes), Stargardt disease (STGD, 93 eyes) and Best disease (33 eyes) were reviewed. The demographic details, clinical data including visual acuity, treatment history and good quality spectral domain optical coherence tomography (SD-OCT) scans were collected...
March 2017: Retina
https://www.readbyqxmd.com/read/28225373/outer-retinal-tubulation-a-case-series
#2
Leticia A Rousso, Julie A Rodman, Brad Sutton, Diana L Shechtman
PURPOSE: The advent of spectral domain optical coherence tomography has led to superb imaging capabilities in addition to enhanced visualization of the retinal layers. Such advancements have led to the identification of a variety of new retinal conditions, including outer retinal tubulations (ORTs). ORTs are ovoid hyporeflective spaces located in the outer retina. The pathogenesis is unclear but seems to involve sublethal injury to the photoreceptors leading to a compensatory reorganization of the photoreceptor layer with the neighboring ellipsoid zone resulting in a hyperreflective border surrounding a central lumen...
March 2017: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/28225368/the-fundus-phenotype-associated-with-the-p-ala243val-best1-mutation
#3
Kamron N Khan, Farrah Islam, Anthony T Moore, Michel Michaelides
PURPOSE: To describe a highly recognizable and reproducible retinal phenotype associated with a specific BEST1 mutation-p.Ala243Val. METHODS: Retrospective review of consecutive cases where genetic testing has identified p.Ala243Val BEST1 as the cause of disease. Electronic patient records were used to extract demographic, as well as functional and anatomical data. These data were compared with those observed with the most common BEST1 genotype, p.Arg218Cys. RESULTS: Eight individuals (six families) were identified with the p...
February 20, 2017: Retina
https://www.readbyqxmd.com/read/28224992/diagnostic-exome-sequencing-in-266-dutch-patients-with-visual-impairment
#4
Lonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, L Ingeborgh van den Born, Caroline Cw Klaver, Joke Bgm Verheij, Carel B Hoyng, Martijn H Breuning, Camiel Jf Boon, Anneke J Kievit, Virginie Jm Verhoeven, Jan Wr Pott, Suzanne Ceh Sallevelt, Johanna M van Hagen, Astrid S Plomp, Hester Y Kroes, Stefan H Lelieveld, Jayne Y Hehir-Kwa, Steven Castelein, Marcel Nelen, Hans Scheffer, Dorien Lugtenberg, Frans Pm Cremers, Lies Hoefsloot, Helger G Yntema
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis. In the vision gene panel analysis, variants in genes known to cause inherited eye disorders were assessed for pathogenicity. If no causative variants were detected and when the patient consented, the entire exome data was analyzed. A total of 266 Dutch patients with different types of inherited eye disorders, including inherited retinal dystrophies, cataract, developmental eye disorders and optic atrophy, were investigated...
February 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28191768/multimodal-delivery-of-isogenic-mesenchymal-stem-cells-yields-synergistic-protection-from-retinal-degeneration-and-vision-loss
#5
Benjamin Bakondi, Sergey Girman, Bin Lu, Shaomei Wang
We previously demonstrated that subretinal injection (SRI) of isogenic mesenchymal stem cells (MSCs) reduced the severity of retinal degeneration in Royal College of Surgeons rats in a focal manner. In contrast, intravenous MSC infusion (MSC(IV) ) produced panoptic retinal rescue. By combining these treatments, we now show that MSC(IV) supplementation potentiates the MSC(SRI) -mediated rescue of photoreceptors and visual function. Electrophysiological recording from superior colliculi revealed 3.9-fold lower luminance threshold responses (LTRs) and 22% larger functional rescue area from combined treatment compared with MSC(SRI) alone...
February 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28187978/optical-coherence-tomography-examination-of-the-retinal-pigment-epithelium-in-best-vitelliform-macular-dystrophy
#6
Cynthia X Qian, Dionisio Charran, Cameron R Strong, Timothy J Steffens, Thiran Jayasundera, John R Heckenlively
PURPOSE: To describe the anatomic changes and natural history of vitelliform lesions in Best vitelliform macular dystrophy (BVMD) using spectral-domain optical coherence tomography (OCT). DESIGN: Prospective comparative case series. PARTICIPANTS: Twenty patients (40 eyes) with molecular confirmation of mutation in the BEST1 gene and 20 age-matched controls were included. METHODS: Color fundus photographs, fundus autofluorescence, and spectral-domain OCT were obtained, and these findings were compared between the 2 groups...
February 7, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28186610/-progress-in-research-on-pathogenic-genes-and-gene-therapy-for-inherited-retinal-diseases
#7
Ling Zhu, Cong Cao, Jiji Sun, Tao Gao, Xiaoyang Liang, Zhipeng Nie, Yanchun Ji, Pingping Jiang, Minxin Guan
Inherited retinal diseases (IRDs), including retinitis pigmentosa, Usher syndrome, Cone-Rod degenerations, inherited macular dystrophy, Leber's congenital amaurosis, Leber's hereditary optic neuropathy are the most common and severe types of hereditary ocular diseases. So far more than 200 pathogenic genes have been identified. With the growing knowledge of the genetics and mechanisms of IRDs, a number of gene therapeutic strategies have been developed in the laboratory or even entered clinical trials. Here the progress of IRD research on the pathogenic genes and therapeutic strategies, particularly gene therapy, are reviewed...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28181551/whole-exome-sequencing-using-ion-proton-system-enables-reliable-genetic-diagnosis-of-inherited-retinal-dystrophies
#8
Marina Riera, Rafael Navarro, Sheila Ruiz-Nogales, Pilar Méndez, Anniken Burés-Jelstrup, Borja Corcóstegui, Esther Pomares
Inherited retinal dystrophies (IRD) comprise a wide group of clinically and genetically complex diseases that progressively affect the retina. Over recent years, the development of next-generation sequencing (NGS) methods has transformed our ability to diagnose heterogeneous diseases. In this work, we have evaluated the implementation of whole exome sequencing (WES) for the molecular diagnosis of IRD. Using Ion Proton(TM) system, we simultaneously analyzed 212 genes that are responsible for more than 25 syndromic and non-syndromic IRD...
February 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28181076/visual-evoked-potential-in-rcs-rats-with-okayama-university-type-retinal-prosthesis-ourep%C3%A2-implantation
#9
Alamusi, Toshihiko Matsuo, Osamu Hosoya, Tetsuya Uchida
Photoelectric dye-coupled polyethylene film, designated Okayama University type-retinal prosthesis or OUReP™, generates light-evoked surface electric potentials and stimulates neurons. The dye-coupled films or plain films were implanted subretinally in both eyes of 10 Royal College of Surgeons rats with hereditary retinal dystrophy at the age of 6 weeks. Visual evoked potentials in response to monocular flashing light stimuli were recorded from cranially-fixed electrodes, 4 weeks and 8 weeks after the implantation...
February 8, 2017: Journal of Artificial Organs: the Official Journal of the Japanese Society for Artificial Organs
https://www.readbyqxmd.com/read/28177849/the-clinical-evaluation-of-infantile-nystagmus-what-to-do-first-and-why
#10
Morgan Bertsch, Michael Floyd, Taylor Kehoe, Wanda Pfeifer, Arlene V Drack
INTRODUCTION: Infantile nystagmus has many causes, some life threatening. We determined the most common diagnoses in order to develop a testing algorithm. METHODS: Retrospective chart review. Exclusion criteria were no nystagmus, acquired after 6 months, or lack of examination. DATA COLLECTED: pediatric eye examination findings, ancillary testing, order of testing, referral, and final diagnoses. Final diagnosis was defined as meeting published clinical criteria and/or confirmed by diagnostic testing...
January 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28157192/unravelling-the-genetic-basis-of-simplex-retinitis-pigmentosa-cases
#11
Nereida Bravo-Gil, María González-Del Pozo, Marta Martín-Sánchez, Cristina Méndez-Vidal, Enrique Rodríguez-de la Rúa, Salud Borrego, Guillermo Antiñolo
Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD) characterized ultimately by photoreceptors degeneration. Exhibiting great clinical and genetic heterogeneity, RP can be inherited as an autosomal dominant (ad), autosomal recessive (ar) and X-linked (xl) disorder. Although the relative prevalence of each form varies somewhat between populations, a major proportion (41% in Spain) of patients represent simplex cases (sRP) in which the mode of inheritance is unknown. Molecular genetic diagnostic is crucial, but also challenging, for sRP patients because any of the 81 RP genes identified to date may be causative...
February 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28153808/bestrophin-1-and-retinal-disease
#12
REVIEW
Adiv A Johnson, Karina E Guziewicz, C Justin Lee, Ravi C Kalathur, Jose S Pulido, Lihua Y Marmorstein, Alan D Marmorstein
Mutations in the gene BEST1 are causally associated with as many as five clinically distinct retinal degenerative diseases, which are collectively referred to as the "bestrophinopathies". These five associated diseases are: Best vitelliform macular dystrophy, autosomal recessive bestrophinopathy, adult-onset vitelliform macular dystrophy, autosomal dominant vitreoretinochoroidopathy, and retinitis pigmentosa. The most common of these is Best vitelliform macular dystrophy. Bestrophin 1 (Best1), the protein encoded by the gene BEST1, has been the subject of a great deal of research since it was first identified nearly two decades ago...
January 30, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/28147405/prominent-optic-disc-featured-in-inherited-retinopathy
#13
M G Todorova, R I Bojinova, C Valmaggia, D F Schorderet
Background We investigated the relationship between prominent optic disc (POD) and inherited retinal dystrophy (IRD). Patients and Methods A cross-sectional consecutive study was performed in 10 children and 11 adults of 7 non-related families. We performed clinical phenotyping, including a detailed examination, fundus autofluorescence, and colour fundus and OCT imaging. Genetic testing was subsequently performed for all family members presenting retinal pathology. Results In 4 members of a 3-generation family, hyperfluorescent deposits on the surface of POD were related to a p...
February 1, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28143742/cone-genesis-tracing-by-the-chrnb4-egfp-mouse-line-evidences-of-cellular-material-fusion-after-cone-precursor-transplantation
#14
Sarah Decembrini, Catherine Martin, Florian Sennlaub, Sylvain Chemtob, Martin Biel, Marijana Samardzija, Alexandre Moulin, Francine Behar-Cohen, Yvan Arsenijevic
The cone function is essential to mediate high visual acuity, color vision, and daylight vision. Inherited cone dystrophies and age-related macular degeneration affect a substantial percentage of the world population. To identify and isolate the most competent cells for transplantation and integration into the retina, cone tracing during development would be an important added value. To that aim, the Chrnb4-EGFP mouse line was characterized throughout retinogenesis. It revealed a sub-population of early retinal progenitors expressing the reporter gene that is progressively restricted to mature cones during retina development...
January 28, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28143435/genetic-characterization-of-italian-patients-with-bardet-biedl-syndrome-and-correlation-to-ocular-renal-and-audio-vestibular-phenotype-identification-of-eleven-novel-pathogenic-sequence-variants
#15
Gabriella Esposito, Francesco Testa, Miriam Zacchia, Anna Alessia Crispo, Valentina Di Iorio, Giovanna Capolongo, Luca Rinaldi, Marcella D'Antonio, Tiziana Fioretti, Pasquale Iadicicco, Settimio Rossi, Annamaria Franzè, Elio Marciano, Giovanbattista Capasso, Francesca Simonelli, Francesco Salvatore
BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the median age at diagnosis being 9 years. In the attempt to shed light on BBS and improve its diagnosis and treatment, we evaluated the genotype-phenotype relationship in patients with a molecular diagnosis of BBS. METHODS: We analyzed three common BBS genes, BBS1, BBS10 and BBS2, in 25 Italian patients fulfilling the clinical criteria of BBS...
February 1, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28140742/cystoid-macular-changes-on-optical-coherence-tomography-in-a-patient-with-maternally-inherited-diabetes-and-deafness-midd-associated-macular-dystrophy
#16
Cynthia X Qian, Kari Branham, Naheed Khan, Steven K Lundy, John R Heckenlively, Thiran Jayasundera
The clinical presentation and optical coherence tomography findings in a patient with maternally inherited diabetes and deafness (MIDD) are presented to highlight the presence of macular cystoid spaces in some patients with this disease. Typically, patients with MIDD demonstrate progression of a pigmentary maculopathy into areas of geographic macular atrophy. At the time of initial visit, the 30-year-old patient had large macular cystoid changes in addition to retinal pigmentary changes in both eyes. The cystoid changes responded to treatment with systemic immunosuppression and a topical carbonic anhydrase inhibitor (CAI), recurred when treated with topical CAI monotherapy, and finally resolved after an intravitreal triamcinolone acetonide injection...
January 31, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28139756/simple-and-complex-retinal-dystrophies-are-associated-with-profoundly-different-disease-networks
#17
Christina Kiel, Claire Lastrucci, Philip J Luthert, Luis Serrano
Retinopathies are a group of monogenetic or complex retinal diseases associated with high unmet medical need. Monogenic disorders are caused by rare genetic variation and usually arise early in life. Other diseases, such as age-related macular degeneration (AMD), develop late in life and are considered to be of complex origin as they develop from a combination of genetic, ageing, environmental and lifestyle risk factors. Here, we contrast the underlying disease networks and pathological mechanisms of monogenic as opposed to complex retinopathies, using AMD as an example of the latter...
January 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28132693/biallelic-mutation-of-arhgef18-involved-in-the-determination-of-epithelial-apicobasal-polarity-causes-adult-onset-retinal-degeneration
#18
Gavin Arno, Keren J Carss, Sarah Hull, Ceniz Zihni, Anthony G Robson, Alessia Fiorentino, Alison J Hardcastle, Graham E Holder, Michael E Cheetham, Vincent Plagnol, Anthony T Moore, F Lucy Raymond, Karl Matter, Maria S Balda, Andrew R Webster
Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are involved in a broad spectrum of pathways. The presence of unsolved families after highly parallel sequencing strategies suggests that further genes remain to be identified. Whole-exome and -genome sequencing studies employed here in large cohorts of affected individuals revealed biallelic mutations in ARHGEF18 in three such individuals. ARHGEF18 encodes ARHGEF18, a guanine nucleotide exchange factor that activates RHOA, a small GTPase protein that is a key component of tight junctions and adherens junctions...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28129017/retinal-capillaritis-in-a-crb1-associated-retinal-dystrophy
#19
Vittoria Murro, Dario Pasquale Mucciolo, Andrea Sodi, Lorenzo Vannozzi, Cinzia De Libero, Gabriele Simonini, Stanislao Rizzo
PURPOSE: To report a case of CRB1-associated retinal dystrophy characterized by vitritis, retinal capillaritis, and cystoid macular edema (CME). METHODS: A case report. RESULTS: An 8-year-old boy was diagnosed with intermediate uveitis and treated with corticosteroids. He was subsequently diagnosed with retinal dystrophy and found to have two CRB1 mutations. CONCLUSIONS: Retinal capillaritis, vitritis, and CME could be inflammatory features of CRB1 retinal dystrophy in our young patient...
January 27, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28127443/the-unusual-association-of-inverse-retinitis-pigmentosa-and-fuchs-heterochromic-iridocyclitis
#20
Gian Franco Díez-Cattini, David Arturo Ancona-Lezama, Carlos Valdés-Lara, Virgilio Morales-Cantón
BACKGROUND: Classic retinitis pigmentosa (RP) and other syndromic variants have previously been associated to Fuchs' heterochromic iridocyclitis (FHI). Common immunogenic and inflammatory pathways have been proposed to explain the higher incidence of this uveitic phenomenon in patients with retinal dystrophies without definitive answers. Infrequent variants of RP such as inverse RP have not been previously reported in association with FHI. We believe that finding the way these entities connect can shed some light into their complex pathogenesis and help find ways to foresee and prevent the appearance of complications such as cataract and macular edema...
2017: International Journal of Retina and Vitreous
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