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      Edwin M Stone

      Edwin M Stone

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      Department of Ophthalmology and Visual Sciences, University of Iowa, IA, USA | Institute for Vision Research, The University of Iowa, Iowa City, IA 52242, USA | Institute for ...

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      Edwin M Stone:Expert Impact

      Concepts for whichEdwin M Stonehas direct influence:Retinitis pigmentosa,Stargardt disease,Leber congenital amaurosis,Macular degeneration,Retinal degeneration,Visual acuity.

      Edwin M Stone:KOL impact

      Concepts related to the work of other authors for whichfor which Edwin M Stone has influence:Gene therapy,Retinitis pigmentosa,Stargardt disease,Visual acuity,Stem cells,Leber congenital amaurosis,Trabecular meshwork.

      KOL Resume for Edwin M Stone

      Year
      2022

      Department of Ophthalmology and Visual Sciences, University of Iowa, IA, USA

      2021

      Institute for Vision Research, The University of Iowa, Iowa City, Iowa

      2020

      The Institute for Vision Research, University of Iowa, Iowa City, IA, USA; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.

      Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa Hospital and Clinics, Iowa City, Iowa.

      2019

      Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52241, USA.

      Department of Ophthalmology and Visual Sciences, Carver College of Medicine, Iowa City, IA 52242

      The University of Iowa Carver College of Medicine

      2018

      Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, IA, USA

      Institute for Vision Research, University of Iowa, Iowa City, Iowa.

      2017

      Department of Ophthalmology andVisual Sciences, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA

      Stephen A. Wynn Institute for Vision Research, the University of Iowa, Iowa City, Iowa

      2016

      Department of Ophthalmology and Visual Sciences The University of Iowa Iowa City, Iowa USA

      Howard Hughes Medical Institute, Iowa City, Iowa

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      Sample of concepts for which Edwin M Stone is among the top experts in the world.
      Concept World rank
      snp rs613872 #1
      aav2 4 #1
      codon pro347ala #1
      ntg 2606 controls #1
      pedigree united states #1
      rd1 imageforming vision #1
      2 degrees year #1
      rp arg135leu #1
      canine vmd2 gene #1
      adniv female follow #1
      cnv analysis ppcd1 #1
      poag openangle humans #1
      dna siblings tomography #1
      holomonitor #1
      cec differentiation #1
      1 kb v1 #1
      pigs pilot study #1
      secord rpe65 #1
      abca4 alleles #1
      heraldry genes human #1
      cecs mac deposition #1
      p0 p0001 #1
      primordial genes divergence #1
      sh3pxd2b patients #1
      slav preschool eye #1
      hdads retina #1
      structural vascular xlrs #1
      ldf earliest stage #1
      coding regions ovol2 #1
      increase osel #1
      disease sequence abca4rd #1
      leading disease ldf #1
      rds gene #1
      cmr bmd #1
      endothelial cells choriocapillaris #1
      spectacle interactive resource #1
      arg135leu mutation rhodopsin #1
      western child gel #1
      arg74cys #1
      heterozygous triplication #1
      gucy2d 5 patients #1
      caveolin genes cav1 #1
      mtrnr2l1 #1
      abca4 mutations abca4 #1
      patients bvmd #1
      pr257x #1
      mac early amd #1
      cd31 ca4 #1
      patientspecific ipscs #1
      patients his423arg #1
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      Prominent publications by Edwin M Stone

      KOL-Index: 15233

      OBJECTIVE: To investigate the phenotype and age-related penetrance of primary open-angle glaucoma (POAG) in Australian families with the most common Myocilin mutation (Gln368STOP).

      DESIGN: Cross-sectional genetic study.

      PARTICIPANTS: Eight pedigrees carrying the Gln368STOP mutation were ascertained from 1730 consecutive cases of POAG in the Glaucoma Inheritance Study in Tasmania.

      METHODS: Index cases and available family members were examined for signs of glaucoma, and the presence of ...

      Known for Gln368stop Mutation | Oht Poag | Glaucoma Families | Age Diagnosis | Genetic Heterogeneity
      KOL-Index: 15149

      OBJECTIVE: To report the spectrum of ophthalmic findings in patients with Stargardt dystrophy or fundus flavimaculatus who have a specific sequence variation in the ABCR gene.

      PATIENTS: Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were identified with possible disease-causing sequence variations in the ABCR gene from a group of 66 patients who were screened for sequence variations in this gene.

      METHODS: Patients underwent a routine ...

      Known for Sequence Variations | Stargardt Dystrophy | Abcr Gene | Clinical Phenotypes | Fluorescein Angiography
      KOL-Index: 14770

      PURPOSE: Mutations of the forkhead transcription factor gene FOXC1 result in anterior segment anomalies. No description of the spectrum of defects resulting from a single point mutation of this gene exists in the ophthalmology literature. We have screened all available patients with Axenfeld-Rieger genes (PITX2 and FOXC1). In this report, we clinically characterize the spectrum of ocular and systemic manifestations in one family resulting from a previously reported point mutation ...

      Known for Peters Anomaly | Rieger Syndrome | Foxc1 Gene | Anterior Segment | Point Mutation
      KOL-Index: 14754

      OBJECTIVE: To determine the safety and efficacy of subretinal gene therapy in the RPE65 form of Leber congenital amaurosis using recombinant adeno-associated virus 2 (rAAV2) carrying the RPE65 gene.

      DESIGN: Open-label, dose-escalation phase I study of 15 patients (range, 11-30 years of age) evaluated after subretinal injection of the rAAV2- RPE65 vector into the worse-functioning eye. Five cohorts represented 4 dose levels and 2 different injection strategies.

      MAIN OUTCOME MEASURES: ...

      Known for Rpe65 Mutations | Gene Therapy | Leber Congenital Amaurosis | 3 Years | Visual Acuity
      KOL-Index: 14703

      PURPOSE: To evaluate the outcome of intravitreal injection of aflibercept in cases with exudative age-related macular degeneration, (AMD) resistant to injections of bevacizumab or ranibizumab.

      DESIGN: Retrospective observational case series.

      METHODS: A retrospective chart review at a single institution was conducted to identify patients with exudative AMD and choroidal neovascularization (CNV) in 1 or both eyes resistant to treatment with ranibizumab or bevacizumab who were switched to ...

      Known for Aflibercept Therapy | Bevacizumab Ranibizumab | Degeneration Resistant | Exudative Age | Central Macular Thickness
      KOL-Index: 14313

      OBJECTIVE: To weight the rod-, cone-, and melanopsin-mediated activation of the retinal ganglion cells, which drive the pupil light reflex by varying the light stimulus wavelength, intensity, and duration.

      DESIGN: Experimental study.

      PARTICIPANTS: Forty-three subjects with normal eyes and 3 patients with neuroretinal visual loss.

      METHODS: A novel stimulus paradigm was developed using either a long wavelength (red) or short wavelength (blue) light given as a continuous Ganzfeld stimulus ...

      Known for Pupil Responses | Blue Light | Normal Eyes | Cells Retinal | Outcome Measures
      KOL-Index: 14264

      PURPOSE: To correlate visual acuity of patients with Leber's congenital amaurosis (LCA) and early childhood-onset retinitis pigmentosa (RP) with mutations in underlying LCA genes.

      DESIGN: Multicentered retrospective observational study.

      PARTICIPANTS: After exclusion of 28 subjects, 169 patients with the diagnosis of LCA and 27 patients with early childhood-onset RP were included in the study because the underlying mutations in AIPL1, GUCY2D, RDH12, RPE65, CRX, CRB1, RPGRIP1, CEP290, ...

      Known for Visual Acuity | Congenital Amaurosis | Patients Lca | Retinitis Pigmentosa | Early Childhood
      KOL-Index: 14047

      Age-related macular degeneration (AMD) is the most common cause of vision loss in developed countries. A defining characteristic of this disorder is the accumulation of material between Bruch's membrane and the retinal pigment epithelium (RPE), first as microscopic basal deposits and later as clinically evident drusen. The pathogenesis of these deposits remains to be defined. Biochemical and genetic studies have suggested that inflammation and complement activation may play roles in AMD. ...

      Known for R345w Mutation | Rpe Amd | Basal Deposits | Bruchs Membrane | Complement Activation
      KOL-Index: 13615

      PURPOSE: To evaluate genotypic and macular morphologic correlations in patients with RPE65-, CEP290-, GUCY2D-, or AIPL1-related Leber congenital amaurosis (LCA) using spectral-domain optical coherence tomography (SD-OCT).

      METHODS: SD-OCT macular scans were performed in 21 patients, including 10 with RPE65, 7 with CEP290, 3 with GUCY2D, and 1 with AIPL1 mutations. An image processing software was used to manually draw segmentation lines by three observers. Lamellar structure was evaluated ...

      Known for Congenital Amaurosis | Patients Rpe65 | Cep290 Mutations | Visual Acuity | Retinal Layers
      KOL-Index: 13391

      Retinitis pigmentosa (RP) is a genetically heterogeneous heritable disease characterized by apoptotic death of photoreceptor cells. We used exome sequencing to identify a homozygous Alu insertion in exon 9 of male germ cell-associated kinase (MAK) as the cause of disease in an isolated individual with RP. Screening of 1,798 unrelated RP patients identified 20 additional probands homozygous for this insertion (1.2%). All 21 affected probands are of Jewish ancestry. MAK encodes a kinase ...

      Known for Retinitis Pigmentosa | Stem Cells | Induced Pluripotent | Exome Sequencing | Germ Cell
      KOL-Index: 13311

      BACKGROUND AND OBJECTIVES: Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens. We report herein the occurrence of three separate phenotypes within a single family with a novel 3-base pair deletion of codon 153 or 154 of the peripherin/RDS gene.

      DESIGN: Case reports with clinical features, fluorescein angiography, kinetic perimetry, electrophysiological studies, and molecular ...

      Known for Fundus Flavimaculatus | Pattern Dystrophy | Retinitis Pigmentosa | Rds Gene | Phenotypic Variation

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      Department of Ophthalmology and Visual Sciences, University of Iowa, IA, USA | Institute for Vision Research, The University of Iowa, Iowa City, IA 52242, USA | Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Universit

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