Loading...
*  retinitis pigmentosa GTPase regulator - Biomarker | BiomarkerBase
Type 1 X Linked Cone Rod Dystrophy, Retinal Diseases and 284 other diseases. Learn more about retinitis pigmentosa GTPase ...
  https://www.biomarkerbase.com/rpgr
*  p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy | Disease Models & Mechanisms
2007). Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology 68, 569-577. ... 2010). Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet. 6, e1001181. doi:10.1371/ ... 2003). Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat. Genet. 35, 315-317. ... Facioscapulohumeral muscular dystrophy (FSHD) affects over 25,000 people in the USA alone, making it one of the most prevalent ...
  http://dmm.biologists.org/content/10/10/1211?rss=1
*  Endothelial Cdkn1a (p21) Overexpression and Accelerated Senescence in a Mouse Model of Fuchs Endothelial Corneal Dystrophy |...
Yu AL Fuchshofer R Kook D Kampik A Bloemendal H Welge-Lussen U. Subtoxic oxidative stress induces senescence in retinal pigment ... Baratz KH Tosakulwong N Ryu E E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med . 2010;363:1016-1024. [CrossRef] [PubMed ... Increased clusterin expression in Fuchs' endothelial dystrophy. Invest Ophthalmol Vis Sci . 2008;49:2946-2955. [CrossRef] [ ... Vithana EN Morgan PE Ramprasad V SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet . 2008;17:656-666. [ ...
  http://iovs.arvojournals.org/article.aspx?articleid=2128214
*  Bardet-Biedl syndrome - Wikipedia
... that photoreceptor cells are nourished by the IFT of retinal cilia now offers a potential explanation for the retinal dystrophy ... The main clinical features are rod-cone dystrophy, with childhood-onset visual loss preceded by night blindness; postaxial ... Meckel-Gruber syndrome and some forms of retinal degeneration. The syndrome is named after Georges Bardet and Arthur Biedl.The ...
  https://en.wikipedia.org/wiki/Bardet%E2%80%93Biedl_syndrome
*  Retinal Dystrophies: Functional Genomics to Gene Therapy | Cell & Molecular Biology | Life Sciences | Subjects | Wiley
Gene therapy of retinal dystrophies: Achievements, challenges and prospects (Dean Bok).. Identifying retinal disease genes: how ... functional genomics of retinal diseases, animal models of retinal dystrophies, and finally with studies on gene therapeutic ... Studies on retinal and retinal pigment epithelial gene expression (Itay Chowers, Noriko Esumi, Peter Campochiaro, and Donald J ... Retinal Dystrophies: Functional Genomics to Gene Therapy. Gregory R. Bock (Editor), Gerry Chader (Editor), Jamie A. Goode ( ...
  https://www.wiley.com/en-us/Retinal+Dystrophies%3A+Functional+Genomics+to+Gene+Therapy-p-9780470092637
*  PPT - HEREDITARY RETINAL DYSTROPHIES PowerPoint Presentation - ID:335032
Cone dystrophy. Leber congenital amaurosis. 2. Retinal pigment epithelial dystrophies. Best vitelliform macular dystrophy. ... 1. Photoreceptor dystrophies. Retinitis pigmentosa. Retinitis punctata albescens. Fundus albipunctatus. ... Cone dystrophy. Leber congenital amaurosis. 2. Retinal pigment epithelial dystrophies. Best vitelliform macular dystrophy. ... types of retinal venous occlusion central retinal vein occlusion branch retinal vein occlusion hemi retinal ...
  https://www.slideserve.com/tam/hereditary-retinal-dystrophies
*  IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies
... Daniel F. Schorderet,1,2,3 ... "High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy," Investigative Ophthalmology and ... W. Berger, B. Kloeckener-Gruissem, and J. Neidhardt, "The molecular basis of human retinal and vitreoretinal diseases," ... Progress in Retinal and Eye Research, vol. 29, no. 5, pp. 335-375, 2010. View at Publisher · View at Google Scholar · View at ...
  https://www.hindawi.com/journals/bmri/2013/198089/ref/
*  Clinical Spectrum of Patients With AIPL1 Mutations in Recessive Inherited Retinal Dystrophies | IOVS | ARVO Journals
Methods: : A total of 292 unrelated probands with LCA or childhood onset autosomal recessive retinal dystrophy were screened ... Clinical Spectrum of Patients With AIPL1 Mutations in Recessive Inherited Retinal Dystrophies ... Clinical Spectrum of Patients With AIPL1 Mutations in Recessive Inherited Retinal Dystrophies ... and autosomal recessive childhood onset retinal dystrophy caused by AIPL1 sequence variants in a single institution. ...
  https://iovs.arvojournals.org/article.aspx?articleid=2371729
*  An Analysis of ABCR Mutations in British Patients with Recessive Retinal Dystrophies | IOVS | ARVO Journals
... and autosomal recessive cone-rod dystrophy (arCRD). To assess the involvement of ABCR in these retinal dystrophies, the gene ... Early Onset Retinal Dystrophy Due to Mutations in LRAT: Molecular Analysis and Detailed Phenotypic Study ... An Analysis of ABCR Mutations in British Patients with Recessive Retinal Dystrophies ... An Analysis of ABCR Mutations in British Patients with Recessive Retinal Dystrophies ...
  https://iovs.arvojournals.org/article.aspx?articleid=2123408
*  Mutation analysis of genes associated with inherited retinal dystrophies in 257 patients with glaucoma | IOVS | ARVO Journals
Purpose: Patients with inherited retinal dystrophies are predisposed to primary glaucoma. Rare, high penetrant mutations in ... Conclusions: Identification of potential pathogenic mutations in genes associated with retinal dystrophies in 2.3% of patients ... Mutation analysis of genes associated with inherited retinal dystrophies in 257 patients with glaucoma ... Mutation analysis of genes associated with inherited retinal dystrophies in 257 patients with glaucoma ...
  https://iovs.arvojournals.org/article.aspx?articleid=2331730
*  RePub, Erasmus University Repository: Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?
As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of ... Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?. Publication. Publication. American ... rod dominated dystrophies (OR high myopia 10.1, P ,.0001; OR high hyperopia 9.7, P =.001; SE −2.27 D [SD 4.65]), and retinal ... Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?. American Journal of Ophthalmology, 182 ...
  https://repub.eur.nl/pub/101658
*  Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation
... ... Fundus examination findings of retinal dystrophy were present at age 3 years. Both boys have abnormal electroretinograms with ... reduced or undetectable rod responses along with reduced cone responses consistent with rod-cone dystrophy. Our observations ...
  https://insights.ovid.com/pubmed?PMID=28337834
*  Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation
... Reinis, Ainars ... cone-rod dystrophy, CORD5, electroretinography, mutation, optical coherence tomography, PITPNM3 National Category Medical and ... Our observations of the PITPNM3 p.Q626H mutation carriers confirm that CORD5 is a disease not to mix with other retinal ... so far indicate that CORD5 is characterized by predominant cone dysfunction without signs of general involvement of the retinal ...
  http://umu.diva-portal.org/smash/record.jsf?pid=diva2:625804
*  Molecular investigation of a large UK cohort of early onset retinal dystrophy | IOVS | ARVO Journals
This included IFT140 related retinal dystrophy in a family with no skeletal or renal manifestations of IFT140 related Mainzer- ... Molecular investigation of a large UK cohort of early onset retinal dystrophy ... Molecular investigation of a large UK cohort of early onset retinal dystrophy ... Molecular investigation of a large UK cohort of early onset retinal dystrophy. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):2867. ...
  https://iovs.arvojournals.org/article.aspx?articleid=2332679
*  The Natural History of Disease Progression in Patients With RPE65-Mediated Inherited Retinal Dystrophies | IOVS | ARVO Journals
The data show that VA and VF do not improve during the natural history in RPE65 deficient inherited retinal dystrophy. ... Conclusions : In this cohort of RPE65-mediated inherited retinal dystrophy patients, VA and VF deterioration was quantified ... The Natural History of Disease Progression in Patients With RPE65-Mediated Inherited Retinal Dystrophies ... The Natural History of Disease Progression in Patients With RPE65-Mediated Inherited Retinal Dystrophies ...
  https://iovs.arvojournals.org/article.aspx?articleid=2564400
*  Hypomorphic mutations in RCBTB1 cause autosomal recessive isolated and syndromic inherited retinal dystrophy | IOVS | ARVO...
Hypomorphic mutations in RCBTB1 cause autosomal recessive isolated and syndromic inherited retinal dystrophy ... Hypomorphic mutations in RCBTB1 cause autosomal recessive isolated and syndromic inherited retinal dystrophy ... Hypomorphic mutations in RCBTB1 cause autosomal recessive isolated and syndromic inherited retinal dystrophy. Invest. ... in individuals with a syndromic inherited retinal dystrophy (IRD), consisting of retinitis pigmentosa (RP), hypothyroidism, ...
  https://iovs.arvojournals.org/article.aspx?articleid=2559440
*  Treats And Traps Of Homozygosity Mapping: Compound Heterozygosity In Consanguineous Retinal Dystrophy Families | IOVS | ARVO...
Results: : In this study we have identified novel mutations in known retinal dystrophy genes USH2A (rod-cone dystrophy) and ... Treats And Traps Of Homozygosity Mapping: Compound Heterozygosity In Consanguineous Retinal Dystrophy Families ... Treats And Traps Of Homozygosity Mapping: Compound Heterozygosity In Consanguineous Retinal Dystrophy Families ... Patients with a precise diagnosis of rod-cone dystrophy or Bietti Crystalline Corneoretinal Dystrophy were screened for genetic ...
  https://iovs.arvojournals.org/article.aspx?articleid=2353462
*  Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray | IOVS ...
CRB1 mutation spectrum in inherited retinal dystrophies. Hum Mutat. 2004;24(5)355-369. [CrossRef] [PubMed] ... purpose. Leber Congenital Amaurosis (LCA) is one of the most severe inherited retinal dystrophies with the earliest age of ... Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet. 2000;26( ... A total of 299 unrelated Spanish families with retinal dystrophy were studied. Informed consent was obtained from all persons ...
  https://iovs.arvojournals.org/article.aspx?articleid=2125043
*  Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and...
The presence of developmental abnormalities and severe acne in patients with retinal degeneration may indicate the involvement ... is a common form of retinal degeneration characterized by photoreceptor degeneration and retinal pigment epithelium (RPE) ...
  http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0050205
*  The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies-the clinical phenotype of...
A strict definition of early-onset childhood retinal dystrophies (EOCRDs) does not exist, but inherited retinal dystrophies ... The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies-the clinical phenotype of ... The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies-the clinical phenotype of ... The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies-the clinical phenotype of ...
  http://bjo.bmj.com/content/early/2010/06/08/bjo.2009.165654
*  The Phenotypic Variability of Retinal Dystrophies Associated With Mutations in CRX, With Report of a Novel Macular Dystrophy...
... a progressive retinal dystrophy with rod dysfunction greater than cone on ERG; COD, a progressive retinal dystrophy with ... The Phenotypic Variability of Retinal Dystrophies Associated With Mutations in CRX, With Report of a Novel Macular Dystrophy ... The Phenotypic Variability of Retinal Dystrophies Associated With Mutations in CRX, With Report of a Novel Macular Dystrophy ... a progressive retinal dystrophy with cone dysfunction greater than rod on ERG; RP, also termed rod-cone dystrophy (RCD), ...
  https://iovs.arvojournals.org/article.aspx?articleid=2212613
*  Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort | IOVS | ARVO...
Improved diagnosis of inherited retinal dystrophies by high-fidelity PCR of ORF15 followed by next-generation sequencing. J Mol ... Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy. Expert Rev Mol Diagn. 2015; 15: ... Retinitis pigmentosa (RP; OMIM #268,000) is the most commonly diagnosed inherited retinal dystrophy (IRD). It is clinically and ... Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort ...
  https://iovs.arvojournals.org/article.aspx?articleid=2701831
*  Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. - Semantic Scholar
... on gene augmentation in humans with an early-onset nonsyndromic recessive retinal dystrophy due to mutations in the retinal ... Tremendous challenges still lie ahead to extrapolate these studies to other retinal disease-causing genes, as human gene ... Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the death of photoreceptor and retinal pigment ... Nonsyndromic recessive retinal dystrophies cause severe visual impairment due to the death of photoreceptor and retinal pigment ...
  https://www.semanticscholar.org/paper/Lighting-a-candle-in-the-dark%3A-advances-in-genetics-Hollander-Black/480f4f3db6581c4a2b9b1d183bd4b301bf12fe15
*  Absence of genotype-phenotype correlations in RPE65 gene mutations associated with autosomal recessive retinal dystrophy | IOVS...
Several recurrent mutations were noted across patients with LCA as well as later onset retinal dystrophies, including the ... Patient diagnoses included Leber congenital amaurosis (LCA) type 2, early onset retinal dystrophy (EORD), and early onset ... Absence of genotype-phenotype correlations in RPE65 gene mutations associated with autosomal recessive retinal dystrophy ... Absence of genotype-phenotype correlations in RPE65 gene mutations associated with autosomal recessive retinal dystrophy ...
  https://iovs.arvojournals.org/article.aspx?articleid=2332706