• Disease
  • Retinitis
  • Retinitis Pigmentosa
  • Edwin M Stone

    Prominent publications by Edwin M Stone

    KOL Index score: 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 ...

    Also Ranks for: Gln368stop Mutation |  oht poag |  glaucoma families |  age diagnosis |  genetic heterogeneity
    KOL Index score: 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 ...

    Also Ranks for: Sequence Variations |  stargardt dystrophy |  abcr gene |  clinical phenotypes |  fluorescein angiography
    KOL Index score: 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 ...

    Also Ranks for: Peters Anomaly |  rieger syndrome |  foxc1 gene |  anterior segment |  point mutation
    KOL Index score: 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.


    Also Ranks for: Rpe65 Mutations |  gene therapy |  leber congenital amaurosis |  3 years |  visual acuity
    KOL Index score: 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 ...

    Also Ranks for: Aflibercept Therapy |  bevacizumab ranibizumab |  degeneration resistant |  exudative age |  central macular thickness
    KOL Index score: 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 ...

    Also Ranks for: Pupil Responses |  blue light |  normal eyes |  cells retinal |  outcome measures
    KOL Index score: 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, ...

    Also Ranks for: Visual Acuity |  congenital amaurosis |  patients lca |  retinitis pigmentosa |  early childhood
    KOL Index score: 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. ...

    Also Ranks for: R345w Mutation |  rpe amd |  basal deposits |  bruchs membrane |  complement activation
    KOL Index score: 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 ...

    Also Ranks for: Congenital Amaurosis |  patients rpe65 |  cep290 mutations |  visual acuity |  retinal layers
    KOL Index score: 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 ...

    Also Ranks for: Retinitis Pigmentosa |  stem cells |  induced pluripotent |  exome sequencing |  germ cell
    KOL Index score: 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 ...

    Also Ranks for: Fundus Flavimaculatus |  pattern dystrophy |  retinitis pigmentosa |  rds gene |  phenotypic variation


    Edwin M Stone: Influence Statistics

    Sample of concepts for which Edwin M Stone is among the top experts in the world.
    Concept World rank
    lipofuscin bmd #1
    members tmem98 mutation #1
    dna analysis proband #1
    armd european study #1
    intragenic frmd7 deletion #1
    prph2 haplotypes #1
    intravitreal bevacizumab proband #1
    a2e bmd #1
    disease bestrophin protein #1
    nonmyocilin glaucoma #1
    personalized ipscrpe models #1
    stem cell‐based treatments #1
    gucy2d 5 patients #1
    mutation c828 #1
    amaurosis patients #1
    hdads hdad5 #1
    model lipofuscin accumulation #1
    glaucoma patients iowa #1
    harmonin mouse retina #1
    patient cohorts controls #1
    exudative amd cohort #1
    patients oral supplementation #1
    classical photoreceptor input #1
    p0 5 years #1
    fh cecs #1
    mother choroidal neovascularization #1
    amd outer choroid #1
    western child gel #1
    cone scotomas imaging #1
    mitochondrial dna proband #1
    wildtype mice jncl #1
    bmd control eyes #1
    cell surface refraction #1
    cone stgd1 #1
    ichec1 #1
    regions inl thickening #1
    glc1a gln368stop mutation #1
    amd endothelial cell #1
    rs9943922 snp blotting #1
    amd frequency #1
    mutation retinal #1
    blake3 #1
    bmd cmr #1
    rpe65 age range #1
    soluble retinal #1
    fund hereditary #1
    nasal retina rpe #1
    disease genotypes #1
    wildtype mice aav2cln3 #1

    Key People For Retinitis Pigmentosa

    Top KOLs in the world
    Eliot L Berson
    retinitis pigmentosa visual acuity rhodopsin gene
    THADDEUS P Dryja
    retinitis pigmentosa rhodopsin gene missense mutation
    Gerald Allen Fishman
    retinitis pigmentosa visual acuity stargardt disease
    Michael A Sandberg
    retinitis pigmentosa visual acuity rhodopsin gene
    John R Heckenlively
    retinitis pigmentosa retinal degeneration visual acuity
    Samuel G Jacobson
    retinitis pigmentosa leber congenital amaurosis retinal degeneration

    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.



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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