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Cone rod dystrophie

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https://www.readbyqxmd.com/read/28819299/the-correlation-between-crb1-variants-and-the-clinical-severity-of-brazilian-patients-with-different-inherited-retinal-dystrophy-phenotypes
#1
Fabiana Louise Motta, Mariana Vallim Salles, Karita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, Juliana Maria Ferraz Sallum
Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing. CRB1 is one of many genes analyzed in molecular diagnosis for inherited retinal dystrophy. Crumbs homolog-1 protein encoded by CRB1 is important for cell-to-cell contact, polarization of epithelial cells and the morphogenesis of photoreceptors. Pathogenic variants in CRB1 lead to a huge variety of phenotypes ranging from milder forms of inherited retinal dystrophy, such as retinitis pigmentosa to more severe phenotypes such as Leber congenital amaurosis...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28812650/autosomal-recessive-cone-rod-dystrophy-can-be-caused-by-mutations-in-the-atf6-gene
#2
Anna Skorczyk-Werner, Wei-Chieh Chiang, Anna Wawrocka, Katarzyna Wicher, Małgorzata Jarmuż-Szymczak, Magdalena Kostrzewska-Poczekaj, Aleksander Jamsheer, Rafał Płoski, Małgorzata Rydzanicz, Dorota Pojda-Wilczek, Nicole Weisschuh, Bernd Wissinger, Susanne Kohl, Jonathan H Lin, Maciej R Krawczyński
Inherited retinal dystrophies (IRDs) are clinically and genetically highly heterogeneous, making clinical diagnosis difficult. The advances in high-throughput sequencing (ie, panel, exome and genome sequencing) have proven highly effective on defining the molecular basis of these disorders by identifying the underlying variants in the respective gene. Here we report two siblings affected by an IRD phenotype and a novel homozygous c.1691A>G (p.(Asp564Gly)) ATF6 (activating transcription factor 6A) missense substitution identified by whole exome sequencing analysis...
August 16, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28782506/an-inducible-form-of-nrf2-confers-enhanced-protection-against-acute-oxidative-stresses-in-rpe-cells
#3
Khiem T Vu, John D Hulleman
Increasing evidence suggests that overt oxidative stress within the retina plays an important role in the progression of age-related retinal decline, and in particular, in the disease age-related macular degeneration (AMD). Nuclear factor erythroid 2-like 2 (Nrf2) is a master transcription factor that upregulates numerous of antioxidant/detoxification genes. Nrf2(-/-) mice develop progressive retinal degeneration that includes the formation of drusen-like deposits, lipofuscin, and sub-retinal pigment epithelium (RPE) deposition of inflammatory proteins...
August 4, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28765615/the-phenotypic-variability-of-hk1-associated-retinal-dystrophy
#4
Zhisheng Yuan, Baiyu Li, Mingchu Xu, Emmanuel Y Chang, Huajin Li, Lizhu Yang, Shijing Wu, Zachry T Soens, Yumei Li, Lee-Jun C Wong, Richard A Lewis, Ruifang Sui, Rui Chen
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different retinal symptoms, demonstrating pleiotropic phenotype traits influenced by both underlying genetic and environmental factors. In the present study, we identified four unrelated IRD families with the HK1 p.E851K variant, which was previously reported to cause autosomal dominant retinitis pigmentosa (RP), and described their detailed clinical phenotypes...
August 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28765526/cdhr1-mutations-in-retinal-dystrophies
#5
Katarina Stingl, Anja K Mayer, Pablo Llavona, Lejla Mulahasanovic, Günther Rudolph, Samuel G Jacobson, Eberhart Zrenner, Susanne Kohl, Bernd Wissinger, Nicole Weisschuh
We report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the CDHR1 gene. Detailed ophthalmic examination was performed in seven sporadic and six familial subjects. Mutation screening was done using a customized next generation sequencing panel targeting 105 genes implicated in inherited retinal disorders. In one family, homozygosity mapping with subsequent candidate gene analysis was performed...
August 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28761320/next-generation-sequencing-to-solve-complex-inherited-retinal-dystrophy-a-case-series-of-multiple-genes-contributing-to-disease-in-extended-families
#6
Kaylie D Jones, Dianna K Wheaton, Sara J Bowne, Lori S Sullivan, David G Birch, Rui Chen, Stephen P Daiger
PURPOSE: With recent availability of next-generation sequencing (NGS), it is becoming more common to pursue disease-targeted panel testing rather than traditional sequential gene-by-gene dideoxy sequencing. In this report, we describe using NGS to identify multiple disease-causing mutations that contribute concurrently or independently to retinal dystrophy in three relatively small families. METHODS: Family members underwent comprehensive visual function evaluations, and genetic counseling including a detailed family history...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28751151/development-of-refractive-errors-what-can-we-learn-from-inherited-retinal-dystrophies
#7
Michelle Hendriks, Virginie J M Verhoeven, Gabriëlle H S Buitendijk, Jan Roelof Polling, Magda A Meester-Smoor, Albert Hofman, Maarten Kamermans, L Ingeborgh van den Born, Caroline C W Klaver
PURPOSE: It is unknown which retinal cells are involved in the retina-to-sclera signaling cascade causing myopia. As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of refractive errors, a study investigating the affected cell type, causal gene and refractive error in IRDs may provide insight herein. DESIGN: Case-control study. METHODS: Study population: 302 patients with IRD from two ophthalmogenetic centers in the Netherlands...
July 24, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28725294/acupuncture-benefits-for-flammer-syndrome-in-individuals-with-inherited-diseases-of-the-retina
#8
Tilo Blechschmidt, Maike Krumsiek, Margarita G Todorova
BACKGROUND: Patients with inherited diseases of the retina (IRD) often exhibit signs and symptoms of Flammer syndrome (FS). Acupuncture treatment has shown its positive effect on visual function in patients with IRD. The aim of the present study is to examine the effect of acupuncture on signs and symptoms of FS in a cohort of patients suffering simultaneously FS and IRD. PATIENTS AND METHODS: A prospective pilot study was performed on 17 patients with FS and IRD: rod-cone dystrophy, Nr: 12 (RCD); cone-rod dystrophy, Nr: 3 (CRD) and inherited macular dystrophy, Nr: 2 (IMD; 12♀, 5♂; mean age: 44...
June 2017: EPMA Journal
https://www.readbyqxmd.com/read/28724398/whole-genome-sequencing-identifies-a-novel-alms1-gene-mutation-in-two-chinese-siblings-with-alstr%C3%A3-m-syndrome
#9
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou
BACKGROUND: Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure. CASE PRESENTATION: A Chinese quartet family with two siblings predominantly affected by cone-rod dystrophy and short stature were recruited. The craniofacial dysmorphism and on-set age-of-cone-rod dystrophy in the proband showed a minor intrafamilial variability...
July 19, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28723922/temporal-progression-of-parp-activity-in-the-prph2-mutant-rd2-mouse-neuroprotective-effects-of-the-parp-inhibitor-pj34
#10
Ayse Sahaboglu, Alaa Sharif, Lili Feng, Enver Secer, Eberhart Zrenner, François Paquet-Durand
Peripherin (peripherin/rds) is a membrane-associated protein that plays a critical role in the morphogenesis of rod and cone photoreceptor outer segments. Mutations in the corresponding PRPH2 gene cause different types of retinal dystrophies characterized by a loss of photoreceptors. Over activation of poly-ADP-ribose polymerase (PARP) was previously shown to be involved in different animal models for hereditary retinal dystrophies. This includes the rd2 mouse, which suffers from a human homologous mutation in the PRPH2 gene...
2017: PloS One
https://www.readbyqxmd.com/read/28697496/spatially-resolved-spectral-sensitivities-as-a-potential-read-out-parameter-in-clinical-gene-therapeutic-trials
#11
Birgit Lorenz, Erika Wegscheider, Christian Hamel, Markus N Preising, Knut Stieger
PURPOSE: Spatially resolved functional assessment of rods and cones under photopic and scotopic conditions is desirable to evaluate the treatment outcome of gene therapeutic applications in inherited retinal disorders, such as early- onset severe retinal dystrophy (EOSRD) or achromatopsia. METHODS: A sample of 3 healthy subjects, 6 patients with RPE65 deficiency (aged 11-45 years), and 3 patients with cone dysfunction disorders underwent spectral sensitivity testing (SST) under conditions of dark and light adaptation using a Humphrey Field Analyzer modified perimeter...
July 12, 2017: Ophthalmic Research
https://www.readbyqxmd.com/read/28586915/specific-alleles-of-cln7-mfsd8-a-protein-that-localizes-to-photoreceptor-synaptic-terminals-cause-a-spectrum-of-nonsyndromic-retinal-dystrophy
#12
MULTICENTER STUDY
Kamron N Khan, Mohammed E El-Asrag, Cristy A Ku, Graham E Holder, Martin McKibbin, Gavin Arno, James A Poulter, Keren Carss, Tejaswi Bommireddy, Saghar Bagheri, Benjamin Bakall, Hendrik P Scholl, F Lucy Raymond, Carmel Toomes, Chris F Inglehearn, Mark E Pennesi, Anthony T Moore, Michel Michaelides, Andrew R Webster, Manir Ali
Purpose: Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 patients with nonsyndromic retinopathy due to novel CLN7/MFSD8 mutation combinations were investigated in this study. Methods: Affected patients and their family members were recruited in ophthalmic clinics at each center where they were examined by retinal imaging and detailed electrophysiology...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28586144/co-occurrence-of-jalili-syndrome-and-muscular-overgrowth
#13
Anna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Badura-Stronka, Michal Owecki, Przemysław Kopczynski, Ewa Mrukwa-Kominek, Anna Skorczyk-Werner, Piotr Gasperowicz, Rafal Ploski, Maciej R Krawczynski
Jalili syndrome is a rare disorder inherited in an autosomal recessive pattern manifesting as a combination of cone-rod dystrophy including progressive loss of visual acuity, color blindness, photophobia, and amelogenesis imperfecta with hypoplastic, immature, or hypocalcified dental enamel. It is caused by mutations in CNNM4, which encodes the ancient conserved domain protein 4. Here we report three brothers with Jalili syndrome and muscle overgrowth of the legs. Myopathic changes were found in needle electromyography...
June 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28566787/acute-flaccid-paraparesis-cauda-equina-syndrome-in-a-patient-with-bardet-biedl-syndrome
#14
Vibhu Krishnan Viswanathan, Rishi Mugesh Kanna, Ajoy Prasad Shetty, S Rajasekaran
Bardet-Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis...
May 2017: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/28542676/detailed-clinical-phenotype-and-molecular-genetic-findings-in-cln3-associated-isolated-retinal-degeneration
#15
MULTICENTER STUDY
Cristy A Ku, Sarah Hull, Gavin Arno, Ajoy Vincent, Keren Carss, Robert Kayton, Douglas Weeks, Glenn W Anderson, Ryan Geraets, Camille Parker, David A Pearce, Michel Michaelides, Robert E MacLaren, Anthony G Robson, Graham E Holder, Elise Heon, F Lucy Raymond, Anthony T Moore, Andrew R Webster, Mark E Pennesi
Importance: Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration, but have recently also been identified in patients with nonsyndromic inherited retinal degenerations. To our knowledge, detailed clinical characterization of such cases has yet to be reported...
July 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28511423/bardet-biedl-syndrome-a-report-of-two-cases-with-otolaryngologic-symptoms
#16
Mahendra K Singh, Shrinkhal, Sidharth Pradhan, Priyanko Chakraborty
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who presented with complaints of nyctalopia and mental retardation, and additionally one of them had sensorineural hearing loss while the other had serous otitis media. Hearing loss being a rare presentation is worth reporting. Both the patients were given a course of vitamin A and the parents were counseled regarding the prognosis and additional complications associated with the syndrome...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28510482/rod-outer-segment-development-influences-aav-mediated-photoreceptor-transduction-after-subretinal-injection
#17
Lolita Petit, Shan Ma, Shun-Yun Cheng, Guangping Gao, Claudio Punzo
Vectors based on the adeno-associated virus (AAV) are currently the preferred tools for delivering genes to photoreceptors (PR) in small and large animals. AAVs have been applied successfully in various models of PR dystrophies. However, unknown barriers still limit AAV's efficient application in several forms of severe PR degenerations due to insufficient transgene expression and/or treated cells at the time of injection. Optimizations of PR gene therapy strategies will likely benefit from the identification of the cellular factors that influence PR transduction...
June 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28495838/usher-syndrome-type-1-associated-cadherins-shape-the-photoreceptor-outer-segment
#18
Cataldo Schietroma, Karine Parain, Amrit Estivalet, Asadollah Aghaie, Jacques Boutet de Monvel, Serge Picaud, José-Alain Sahel, Muriel Perron, Aziz El-Amraoui, Christine Petit
Usher syndrome type 1 (USH1) causes combined hearing and sight defects, but how mutations in USH1 genes lead to retinal dystrophy in patients remains elusive. The USH1 protein complex is associated with calyceal processes, which are microvilli of unknown function surrounding the base of the photoreceptor outer segment. We show that in Xenopus tropicalis, these processes are connected to the outer-segment membrane by links composed of protocadherin-15 (USH1F protein). Protocadherin-15 deficiency, obtained by a knockdown approach, leads to impaired photoreceptor function and abnormally shaped photoreceptor outer segments...
June 5, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28488341/next-generation-sequencing-targeted-disease-panel-in-rod-cone-retinal-dystrophies-in-m%C3%A4-ori-and-polynesian-reveals-novel-changes-and-a-common-founder-mutation
#19
Andrea L Vincent, Nandoun Abeysekera, Katherine A van Bysterveldt, Verity F Oliver, Jamie M Ellingford, Stephanie Barton, Graeme Cm Black
IMPORTANCE: This study identifies unique genetic variation observed in a cohort of Māori and Polynesian patients with rod-cone retinal dystrophies using a targeted Next Generation Sequencing (NGS) retinal disease gene panel BACKGROUND: With over 250 retinal disease genes identified, genetic diagnosis is still only possible in 60-70% of individuals, and even less within unique ethnic groups. DESIGN: Prospective genetic testing in patients with rod-cone retinal dystrophies identified from the New Zealand Inherited Retinal Disease (IRD) Database, PARTICIPANTS: Sixteen Patients of Māori and Polynesian ancestry...
May 9, 2017: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/28460050/ift81-as-a-candidate-gene-for-nonsyndromic-retinal-degeneration
#20
Rachayata Dharmat, Wei Liu, Zhongqi Ge, Zixi Sun, Lizhu Yang, Yumei Li, Keqing Wang, Kandace Thomas, Ruifang Sui, Rui Chen
Purpose: IFT81, a core component of the IFT-B complex, involved in the bidirectional transport of ciliary proteins, has been recently implicated in syndromic ciliopathies. However, none of the IFT-B core complex proteins have been associated with nonsyndromic retinal dystrophies. Given the importance of ciliary transport in photoreceptor function and structural maintenance, we sought to investigate the impact of IFT (intraflagellar transport) mutations in nonsyndromic retinopathies. Methods: Whole exome sequencing was performed on 50 cone-rod dystrophy (CRD) patients that were previously screened for mutations in known retinal disease genes...
May 1, 2017: Investigative Ophthalmology & Visual Science
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