*  Spark Therapeutics Announces Presentation of Additional Phase 3 and Durability Data on SPK-RPE65 at The Retina Society 48th...
... mediated inherited retinal dystrophies.. Principal Investigator Stephen R. Russell, MD, of the... ... including inherited retinal dystrophies, hematologic disorders and neurodegenerative diseases. Spark builds on two decades of ... its lead product candidate for the treatment of RPE65-mediated inherited retinal dystrophies (IRDs). ...
  https://www.cnbc.com/2015/10/10/globe-newswire-spark-therapeutics-announces-presentation-of-additional-phase-3-and-durability-data-on-spk-rpe65-at-the-retina-society-48th.html
*  The Utility of Parallel Genotyping With DNA Arrays in the Molecular Diagnosis of Early-Onset Retinal Dystrophy | IOVS | ARVO...
Purpose: : Early onset retinal dystrophy (EORD), in which patients present with reduced retinal function before the age of 5 ... The Utility of Parallel Genotyping With DNA Arrays in the Molecular Diagnosis of Early-Onset Retinal Dystrophy ... The Utility of Parallel Genotyping With DNA Arrays in the Molecular Diagnosis of Early-Onset Retinal Dystrophy ... The Utility of Parallel Genotyping With DNA Arrays in the Molecular Diagnosis of Early-Onset Retinal Dystrophy . Invest. ...
  http://iovs.arvojournals.org/article.aspx?articleid=2391552
*  Lirias: Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of...
Leber Congenital Amaurosis (LCA), the most severe inherited retinal dystrophy, is genetically heterogeneous, with 14 genes ... 11 patients with early-onset retinal dystrophy (EORD) and 13 patients with Senior-Loken syndrome (SLS), LCA-Joubert syndrome ( ...
  https://lirias.kuleuven.be/handle/123456789/273888
*  Retinoid-Isomerohydrolase
R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal. ... Slowly progressive changes of the retina and retinal pigment epithelium in Briard dogs with hereditary retinal dystrophy. A ... al. (2002) Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in ... al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. ...
  http://www.moldiag.com/de/id/G0547
*  Eye Health Information
Retinal Dystrophy. Retinal dystrophies are chronic and progressive disorders of visual function. 'Dystrophy' means a condition ... that a person is born with, and 'retinal' means relating to the retina. ...
  https://www.lei.org.au/services/eye-health-information/
*  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/
*  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
*  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
*  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
*  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
*  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
*  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. ...
  http://iovs.arvojournals.org/article.aspx?articleid=2332679
*  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
*  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
*  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
*  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
*  Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic...
Retinal images of patients with nonsyndromic retinal dystrophy caused by biallelic MFSD8 mutations. Color fundus photographs ( ... Retinal images of patients with nonsyndromic retinal dystrophy caused by biallelic MFSD8 mutations. Color fundus photographs ( ... Retinal images of patients with nonsyndromic retinal dystrophy caused by biallelic MFSD8 mutations. Color fundus photographs ( ... Retinal images of patients with nonsyndromic retinal dystrophy caused by biallelic MFSD8 mutations. Color fundus photographs ( ...
  https://iovs.arvojournals.org/article.aspx?articleid=2631222
*  High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection...
High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection ... High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection ... Purpose: Comprehensive genetic analysis for genetically heterogeneous retinal dystrophies (RD): RP, early-onset severe RD ( ... for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection, novel disease mechanisms and therapy targets ...
  http://iovs.arvojournals.org/article.aspx?articleid=2148148
*  Screening of SPATA7 in Patients with Leber Congenital Amaurosis and Severe Childhood-Onset Retinal Dystrophy Reveals Disease...
Heckenlively JR Foxman SG Parelhoff ES . Retinal dystrophy and macular coloboma. Doc Ophthalmol. 1988;68:257-271. [CrossRef] [ ... All patients in this study had a clinical diagnosis of LCA or severe AR retinal dystrophy with symptom onset before 6 years of ... Conclusions.: Mutations in SPATA7 are a rare cause of childhood retinal dystrophy accounting for 1.7% of disease in this cohort ... SPATA7 is a rare cause of LCA and severe childhood-onset retinal dystrophy with mutations identified in 1.7% of probands in ...
  http://iovs.arvojournals.org/article.aspx?articleid=2165565
*  CRB1 mutation spectrum in inherited retinal dystrophies.
... Author(s): Hollander, A.I. den ; Davis, J. ; Velde-Visser, S.D. van ... In total, 71 different sequence variants have been identified on 184 CRB1 alleles of patients with retinal dystrophies, ... have shed light on the role of CRB1 in the pathogenesis of retinal dystrophies and its function in the photoreceptors. In this ... We extended our investigations of CRB1 in these retinal dystrophies, and identified nine novel CRB1 sequence variants. In ...
  http://repository.ubn.ru.nl/handle/2066/57334
*  Researchers find causative factors in retinal dystrophies - Retina Global
Researchers find causative factors in retinal dystrophies. Posted on March 7, 2017. March 7, 2017. by RetinaGlobal ... Their research helps explain why mutations in the gene encoding α2δ4 lead to retinal dystrophy, a disease characterized by ... To study how this protein supports vision, the researchers modeled retinal dystrophy in mice. Like humans, mice lacking α2δ4 ... Posted in Age-related Macular Degeneration, Cone-Rod Dystrophy, Others, Pharmaceuticals/Drugs, Stem Cells and tagged ...
  http://retinaglobal.org/2017/03/researchers-find-causative-factors-in-retinal-dystrophies/
*  Macular dystrophy, retinal, 3 Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com
... retinal, 3 information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, ... Contents for Macular dystrophy, retinal, 3: *Macular dystrophy, retinal, 3 *What is Macular dystrophy, retinal, 3? *Videos ... Causes of Macular dystrophy, retinal, 3 *Symptoms of Macular dystrophy, retinal, 3 *Diagnostic Tests for Macular dystrophy, ... Signs of Macular dystrophy, retinal, 3 *Complications of Macular dystrophy, retinal, 3 *Misdiagnosis of Macular dystrophy, ...
  http://www.rightdiagnosis.com/m/macular_dystrophy_retinal_3/intro.htm