*  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
*  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
*  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. ...
  http://iovs.arvojournals.org/article.aspx?articleid=2332679
*  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
*  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
*  Structure/function variability in RPGR-associated retinal dystrophy | JOV | ARVO Journals
... there is need to characterize retinal structure and function in patients with retinal dystrophy due to mutations in the RPGR ... Structure/function variability in RPGR-associated retinal dystrophy Adam M. Dubis; Jonathan Aboshiha; Yusufu Sulai; Alfredo ... Structure/function variability in RPGR-associated retinal dystrophy You will receive an email whenever this article is ... Methods: Molecularly confirmed RPGR subjects with Rod-Cone dystrophy (RCD) (n=14) and Cone-Rod dystrophy (CORD) (n=6) underwent ...
  http://jov.arvojournals.org/article.aspx?articleid=2213107
*  A pilot investigation of audiovisual processing and multisensory integration in patients with inherited retinal dystrophies |...
In this study, we focused on AV integration in cases of inherited retinal dystrophies (IRDs), in order to further understand ... A pilot investigation of audiovisual processing and multisensory integration in patients with inherited retinal dystrophies. ... Power spectral density analysisElectroencephalographyInherited retinal dystrophiesEvent-related brain potentials ... IRD is a group of degenerative retinal diseases causing a progressive loss of photoreceptor cells. While the retinal micro- ...
  https://bmcophthalmol.biomedcentral.com/articles/10.1186/s12886-017-0640-y
*  A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. | IRIS...
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. ... A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. ... PURPOSE: To characterize clinically and genetically a four-generation Italian family with autosomal dominant retinal dystrophy ... RESULTS: Nineteen individuals were affected by cone-rod dystrophy and four by cone dystrophy, whereas, in another subject, the ...
  https://ricerca.univaq.it/handle/11697/122745
*  Socio-economic characteristics of patients with generalized retinal dystrophy in Denmark - Danish National Research Database...
PURPOSE: To examine socio-economic characteristics of patients with generalized retinal dystrophy in Denmark. METHODS: Cross- ... Retinal Dystrophies; Social Class; Surveys and Questionnaires; Journal Article Main Research Area: Medical science Publication ... 2285 patients with a Danish civil registration number were registered as having a generalized retinal dystrophy. At the age of ... We found that patients with generalized retinal dystrophy differed significantly from a matched control group on several socio- ...
  http://www.forskningsdatabasen.dk/catalog/268517244
*  Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate...
To describe the clinical features of autosomal dominant cone-rod retinal dystrophy (CRD) in a British family mapping to ... Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate ... Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate ... OBJECTIVE: To describe the clinical features of autosomal dominant cone-rod retinal dystrophy (CRD) in a British family mapping ...
  https://www.ndcn.ox.ac.uk/publications/500019
*  PRPH2 gene - Genetics Home Reference
PRPH2 mutations also cause a group of retinal disorders called pattern dystrophies of the retinal pigment epithelium. These ... The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res. 2008 Mar;27(2):213-35. ... Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat ... For example, researchers have reported a family with retinitis pigmentosa, pattern dystrophy of the retinal pigment epithelium ...
  https://ghr.nlm.nih.gov/gene/PRPH2
*  Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence...
Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence ... Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence ... Stargardt macular dystrophy (STGD1) is a predominantly autosomal-recessive inherited retinal disorder due to pathogenic ... the concept of measuring SD-OCT-derived retinal measures, such as peripapillary retinal nerve fibre layer thickness and total ...
  http://bjo.bmj.com/content/100/7/956?ijkey=65622d1e4fcc3a8027bbbea180cd872b67ab1f0f&keytype2=tf_ipsecsha
*  Orphanet: Simple search
Diagnosis of retinal dystrophy (gene panel) Universitat de Barcelona. Facultat de Biologia ... Diagnosis of cone rod dystrophy (Panel) CHU Paris - H pital Necker-Enfants Malades ...
  http://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19168&Typ=Pat
*  Meet the Staff l Broadway Vision Center at 170th l NY
Our commitment is to provide exceptional optometry services to all of our Washington Heights, Harlem, Hamilton Heights, and Inwood patients. Call 646-663-5080
  http://broadwayvision.nyc/meet-the-staff.html