Edwin Stone

Summary

Affiliation: University of Iowa
Country: USA

Publications

  1. pmc T-cell infiltration in autosomal dominant neovascular inflammatory vitreoretinopathy
    Vinit B Mahajan
    Vitreoretinal Service, Department of Ophthalmology and Visual Sciences, The University of Iowa Hospitals and Clinics, Iowa City, IA, USA
    Mol Vis 16:1034-40. 2010
  2. pmc Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
    Emily I Schindler
    Howard Hughes Medical Institute, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA
    Hum Mol Genet 19:3693-701. 2010
  3. pmc Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration
    Vinit B Mahajan
    Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA
    PLoS Genet 8:e1003001. 2012
  4. pmc Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
    Terry A Braun
    Department of Ophthalmology and Visual Sciences
    Hum Mol Genet 22:5136-45. 2013
  5. pmc Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India
    Periasamy Sundaresan
    Department of Genetics, Dr G Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Madurai, Tamilnadu, India
    Mol Vis 15:1781-7. 2009
  6. doi request reprint Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy
    Christine N Kay
    Department of Ophthalmology and Visual Sciences, University of Iowa Institute for Vision Research, University of Iowa, Iowa City, IA 52242, USA
    Arch Ophthalmol 130:357-64. 2012
  7. pmc Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene
    Edwin M Stone
    Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA
    Invest Ophthalmol Vis Sci 52:9665-73. 2011
  8. pmc Evaluation of variants in the selectin genes in age-related macular degeneration
    Robert F Mullins
    Department of Ophthalmology and Visual Sciences, The University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
    BMC Med Genet 12:58. 2011
  9. pmc Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage
    Allan R Shepard
    Alcon Research, Ltd, 6201 South Freeway, Fort Worth, TX 76134, USA
    BMC Genet 4:5. 2003
  10. pmc Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome
    Edwin M Stone
    Department of Ophthalmology and Visual Sciences, The University of Iowa, 375 Newton Rd, 4111 MERF, Iowa City, IA 52242, USA
    Arch Ophthalmol 129:81-7. 2011

Detail Information

Publications99

  1. pmc T-cell infiltration in autosomal dominant neovascular inflammatory vitreoretinopathy
    Vinit B Mahajan
    Vitreoretinal Service, Department of Ophthalmology and Visual Sciences, The University of Iowa Hospitals and Clinics, Iowa City, IA, USA
    Mol Vis 16:1034-40. 2010
    ..Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a familial blinding disease of unknown pathophysiology. The eyes and sera from patients with ADNIV were studied to understand the immune response in this condition...
  2. pmc Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
    Emily I Schindler
    Howard Hughes Medical Institute, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA
    Hum Mol Genet 19:3693-701. 2010
    ..The findings of this study will facilitate the discovery of factors that modify ABCA4 disease and will also aid in the optimal selection of subjects for clinical trials of new therapies...
  3. pmc Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration
    Vinit B Mahajan
    Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA
    PLoS Genet 8:e1003001. 2012
    ..Further investigation of these mutations is likely to provide insight into the pathophysiologic mechanisms of common diseases ranging from autoimmune disorders to diabetic retinopathy...
  4. pmc Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
    Terry A Braun
    Department of Ophthalmology and Visual Sciences
    Hum Mol Genet 22:5136-45. 2013
    ..This study illustrates the utility of RNA sequence analysis of human donor tissue and patient-derived cell lines to identify mutations that would be undetectable by exome sequencing. ..
  5. pmc Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India
    Periasamy Sundaresan
    Department of Genetics, Dr G Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Madurai, Tamilnadu, India
    Mol Vis 15:1781-7. 2009
    ..To test patients from southern India for the presence of mutations that most commonly cause Leber congenital amaurosis (LCA) in northern America...
  6. doi request reprint Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy
    Christine N Kay
    Department of Ophthalmology and Visual Sciences, University of Iowa Institute for Vision Research, University of Iowa, Iowa City, IA 52242, USA
    Arch Ophthalmol 130:357-64. 2012
    ..To describe the anatomical phenotypes of Best vitelliform macular dystrophy (BVMD) with spectral-domain optical coherence tomography (SD-OCT) in a large series of patients with confirmed mutations in the BEST1 gene...
  7. pmc Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene
    Edwin M Stone
    Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA
    Invest Ophthalmol Vis Sci 52:9665-73. 2011
    ..To determine the disease expression in autosomal recessive (ar) retinitis pigmentosa (RP) caused by mutations in the MAK (male germ cell-associated kinase) gene...
  8. pmc Evaluation of variants in the selectin genes in age-related macular degeneration
    Robert F Mullins
    Department of Ophthalmology and Visual Sciences, The University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
    BMC Med Genet 12:58. 2011
    ..We sought to determine whether common ancestral variants in genes encoding the selectin family of proteins are associated with AMD...
  9. pmc Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage
    Allan R Shepard
    Alcon Research, Ltd, 6201 South Freeway, Fort Worth, TX 76134, USA
    BMC Genet 4:5. 2003
    ..To better understand the role myocilin plays in steroid-induced glaucoma and open-angle glaucoma, we examined rabbit myocilin for use in the rabbit animal model of steroid-induced glaucoma...
  10. pmc Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome
    Edwin M Stone
    Department of Ophthalmology and Visual Sciences, The University of Iowa, 375 Newton Rd, 4111 MERF, Iowa City, IA 52242, USA
    Arch Ophthalmol 129:81-7. 2011
    ..To investigate whether mutations in NPHP5 can cause Leber congenital amaurosis (LCA) without early-onset renal disease...
  11. ncbi request reprint Case of Stargardt disease caused by uniparental isodisomy
    John H Fingert
    Dept of Ophthalmology, University of Iowa College of Medicine, Iowa City, IA 52242, USA
    Arch Ophthalmol 124:744-5. 2006
  12. ncbi request reprint Macular degeneration
    Edwin M Stone
    The Carver Family Center for Macular Degeneration, The Howard Hughes Medical Institute, The University of Iowa Carver College of Medicine, Iowa City, Iowa 52245, USA
    Annu Rev Med 58:477-90. 2007
    ..In the future, genetic testing may allow specific preventive treatments to be delivered to individuals at risk, decades before the disease would ordinarily become manifest...
  13. ncbi request reprint Genetic testing for inherited eye disease
    Edwin M Stone
    Carver Family Center for Macular Degeneration, The Howard Hughes Medical Institute, University of Iowa Carver College of Medicine, Iowa City, IA 52245, USA
    Arch Ophthalmol 125:205-12. 2007
  14. ncbi request reprint Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture
    Edwin M Stone
    Department of Ophthalmology, The University of Iowa College of Medicine, Carver Family Center for Macular Degeneration, Iowa City, IA 52242, USA
    Am J Ophthalmol 144:791-811. 2007
    ....
  15. ncbi request reprint Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
    A J Lotery
    Department of Ophthalmology, The University of Iowa College of Medicine, Iowa City 52242, USA
    Invest Ophthalmol Vis Sci 41:1291-6. 2000
    ..To assess the allelic variation of the VMD2 gene in patients with Best disease and age-related macular degeneration (AMD)...
  16. doi request reprint Progress toward effective treatments for human photoreceptor degenerations
    Edwin M Stone
    University of Iowa Carver College of Medicine, 375 Newton Road, 4111 MERF, Iowa City, IA 52242, United States
    Curr Opin Genet Dev 19:283-9. 2009
    ....
  17. ncbi request reprint Molecular genetics of age-related macular degeneration
    E M Stone
    Department of Ophthalmology, The University of Iowa College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Hum Mol Genet 10:2285-92. 2001
    ..These studies, when combined with the power of genetic approaches, are likely to ultimately reveal a set of genes responsible for a sizeable fraction of AMD...
  18. ncbi request reprint A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
    E M Stone
    The Department of Ophthalmology, The University of Iowa College of Medicine, Iowa City, USA
    Nat Genet 22:199-202. 1999
    ..Identification of this mutation may aid in the development of an animal model for drusen, as well as in the identification of other genes involved in human macular degeneration...
  19. ncbi request reprint Variations in the myocilin gene in patients with open-angle glaucoma
    Wallace L M Alward
    Department of Ophthalmology, University of Iowa College of Medicine, 200 Hawkins Dr, Iowa City, IA 52242, USA
    Arch Ophthalmol 120:1189-97. 2002
    ..To determine the prevalence and associated phenotype of myocilin (MYOC) coding sequence variations and a specific promoter polymorphism (MYOC.mt1) in patients with glaucoma and glaucoma suspects...
  20. ncbi request reprint Missense variations in the fibulin 5 gene and age-related macular degeneration
    Edwin M Stone
    Center for Macular Degeneration, University of Iowa, Carver College of Medicine, Iowa City 52242, USA
    N Engl J Med 351:346-53. 2004
    ..The study of a rare mendelian form of macular degeneration implicated fibulin genes in the pathogenesis of more common forms of this disease. We evaluated five fibulin genes in a large series of patients with AMD...
  21. ncbi request reprint Clinical phenotypes in carriers of Leber congenital amaurosis mutations
    Jennifer A Galvin
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Ophthalmology 112:349-56. 2005
    ..To determine the clinical phenotypes in carriers with probable disease-causing sequence variations in 1 of 6 genes established to cause Leber congenital amaurosis (LCA)...
  22. ncbi request reprint CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis
    Timothy T McMahon
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Invest Ophthalmol Vis Sci 50:3185-7. 2009
    ..To present an association of mutations in the CRB1 gene with keratoconus in patients with Leber congenital amaurosis (LCA)...
  23. ncbi request reprint Evaluation of genotype-phenotype associations in leber congenital amaurosis
    Jennifer A Galvin
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Retina 25:919-29. 2005
    ..To describe the clinical phenotypes associated with various genotypes known to cause Leber congenital amaurosis (LCA)...
  24. ncbi request reprint Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa
    Saloni Walia
    Department of Ophthalmology, University of Illinois at Chicago, Chicago, Illinois, USA
    Ophthalmology 117:1190-8. 2010
    ..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...
  25. doi request reprint Chromatic pupillometry in patients with retinitis pigmentosa
    Randy Kardon
    Department of Ophthalmology and Visual Science, University of Iowa, Iowa City, Iowa, USA
    Ophthalmology 118:376-81. 2011
    ..To evaluate the chromatic pupillary response as a means of assessing outer and inner retinal function in patients with retinitis pigmentosa (RP)...
  26. ncbi request reprint Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus
    John H Fingert
    Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
    Ophthalmic Genet 31:77-80. 2010
    ..To identify the disease-causing mutation in a large 3 generation pedigree of X-linked congenital nystagmus...
  27. ncbi request reprint ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy
    Gerald A Fishman
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, 60612, USA
    Arch Ophthalmol 121:851-5. 2003
    ..To identify sequence variations in the ABCA4 gene in a cohort of patients with autosomal recessive cone-rod dystrophy...
  28. pmc A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD)
    Izabela Sokal
    Department of Ophthalmology, University of Washington, Seattle, Washington, USA
    Invest Ophthalmol Vis Sci 46:1124-32. 2005
    ..To elucidate the phenotypic and biochemical characteristics of a novel mutation associated with autosomal dominant cone-rod dystrophy (adCORD)...
  29. ncbi request reprint RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 48:332-8. 2007
    ..The relationship of retinal organization and visual function in patients with RDH12 mutations was determined and comparisons made with the disease from mutations in another visual cycle gene, RPE65...
  30. ncbi request reprint A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation
    Thomas A Graul
    Department of Ophthalmology and Visual Sciences, College of Medicine, University of Iowa, Iowa City 52242, USA
    Am J Ophthalmol 134:884-90. 2002
    ..To determine whether primary open-angle glaucoma (POAG) and ocular hypertensive (OHT) patients who harbor the myocilin Gln368Stop mutation differ in phenotype or clinical course from patients without the mutation...
  31. pmc Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis
    Sirichai Pasadhika
    Department of Ophthalmology and Visual Sciences, University of Illinois Medical Center, Chicago, Illinois, USA
    Invest Ophthalmol Vis Sci 51:2608-14. 2010
    ..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)...
  32. ncbi request reprint Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis
    Ann H Milam
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania School of Medicine, 51 North 39th Street, Philadelphia, PA 19104, USA
    Ophthalmology 110:549-58. 2003
    ..To study the retinal degeneration in an 11 -year-old patient with Leber congenital amaurosis (LCA) caused by mutation in GUCY2D...
  33. ncbi request reprint Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma
    Wallace L M Alward
    Department of Ophthalmology, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
    Am J Ophthalmol 136:904-10. 2003
    ..To investigate the association of sequence variations in the optineurin (OPTN) gene in patients with open-angle glaucoma...
  34. ncbi request reprint Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His
    Michael A Grassi
    Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City 52242, USA
    Hum Mutat 27:921-5. 2006
    ..This study suggests that there are other yet unidentified genetic factors important in the pathogenesis of AMD that may mitigate the effects of c.1204T>C, p.Tyr402His variant...
  35. ncbi request reprint Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations
    Sandeep Grover
    Department of Ophthalmology and Visual Sciences, Eye and Ear Infirmary, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Ophthalmology 109:1110-7. 2002
    ..To describe the atypical clinical presentations of pattern dystrophy (PD) in two unrelated families with novel peripherin/RDS mutations...
  36. ncbi request reprint Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus
    Kean T Oh
    Department of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina, USA
    Retina 24:920-8. 2004
    ..To characterize the clinical and electroretinogram (ERG) features of our cohort of patients with Stargardt disease (STGD) exhibiting coding sequence variations in the ABCA4 gene...
  37. ncbi request reprint Myocilin glaucoma
    John H Fingert
    Department of Ophthalmology, College of Medicine, The University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Surv Ophthalmol 47:547-61. 2002
    ..Clinical vignettes of POAG patients from four generations of a family harboring the TYR437HIS myocilin mutation are presented, highlighting the benefits of elucidating the genetics of glaucoma...
  38. pmc Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C
    David S Williams
    Jules Stein Eye Institute, Department of Ophthalmology, UCLA School of Medicine, Los Angeles, CA 90095 7008, USA
    Invest Ophthalmol Vis Sci 50:3881-9. 2009
    ..To investigate the expression of harmonin in the mouse retina, test for ultrastructural and physiological mutant phenotypes in the retina of an Ush1c mutant mouse, and define in detail the retinal phenotype in human USH1C...
  39. ncbi request reprint Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration
    Amir A Azari
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, 51 North 39th Street, Philadelphia, PA 19104, USA
    Invest Ophthalmol Vis Sci 47:5004-10. 2006
    ..To define the retinal phenotype in patients with the Bardet-Biedl syndrome and mutations in the BBS1 gene...
  40. pmc Predicting the pathogenicity of RPE65 mutations
    A R Philp
    Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, Iowa
    Hum Mutat 30:1183-8. 2009
    ..These results suggest that the EPP algorithm may be useful to evaluate the pathogenicity of missense variations in other disease genes where functional assays are not available...
  41. pmc Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 50:2368-75. 2009
    ..To quantify the residual vision in Leber congenital amaurosis (LCA) caused by RPE65 mutations...
  42. ncbi request reprint De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa
    Sharon B Schwartz
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Invest Ophthalmol Vis Sci 44:3593-7. 2003
    ..The Arg677ter mutation in the RP1 gene is one of the most common causes of autosomal dominant retinitis pigmentosa (RP). In the current study, a de novo Arg677ter RP1 gene mutation was identified in a patient with RP...
  43. pmc Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success
    Samuel G Jacobson
    Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 102:6177-82. 2005
    ....
  44. ncbi request reprint Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease
    Robert F Mullins
    Carver Family Center for Macular Degeneration, Department of Ophthalmology and Visual Science, The University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
    Invest Ophthalmol Vis Sci 48:3372-80. 2007
    ..The nature of the vitelliform material and the reason the development of such lesions is usually restricted to the macula are two unsolved questions in the pathogenesis of this disorder...
  45. pmc Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene
    Darryl Y Nishimura
    Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
    Am J Hum Genet 77:1021-33. 2005
    ..This type of mutation is likely to be underreported because of the difficulty of deletion detection in the heterozygous state by the mutation screening methods that are used in many studies...
  46. ncbi request reprint Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa
    John H Fingert
    Department of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
    Arch Ophthalmol 126:1301-7. 2008
    ..To identify the gene causing retinitis pigmentosa (RP) in an autosomal dominant pedigree...
  47. ncbi request reprint Visual function testing: a quantifiable visually guided behavior in mice
    Stewart Thompson
    Howard Hughes Medical Institute and The Carver Family Center for Macular Degeneration, Department of Ophthalmology and Visual Sciences, 4111 MERF, 375 Newton Road, The University of Iowa, Iowa City, IA 52242, USA
    Vision Res 48:346-52. 2008
    ..This suggests that where visual guidance is performance enhancing but not essential, loss of the contribution of visual guidance to the tasks might be compensated for by experience or training...
  48. ncbi request reprint Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Mol Genet 12:1073-8. 2003
    ..The results suggest that the CRB1 disease pathway disturbs the development of normal human retinal organization by interrupting naturally occurring apoptosis...
  49. ncbi request reprint Transcript annotation prioritization and screening system (TrAPSS) for mutation screening
    Brian M O'Leary
    Coordinated Laboratory for Computational Genomics, University of Iowa, Iowa City, IA 52242, USA
    J Bioinform Comput Biol 5:1155-72. 2007
    ..g. conserved protein functional domains) so as to prioritize candidate genes...
  50. pmc Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light
    Stewart Thompson
    Howard Hughes Medical Institute, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa 52242, USA
    Eur J Neurosci 27:1973-9. 2008
    ..Together the evidence demonstrates a pronounced and sustained classical photoreceptor input to irradiance detection for negative masking, and suggests one role of classical photoreceptor input is to constrain dynamic range...
  51. doi request reprint Divergent phenotypes of vision and accessory visual function in mice with visual cycle dysfunction (Rpe65 rd12) or retinal degeneration (rd/rd)
    Stewart Thompson
    Department of Cell and Systems Biology, The University of Toronto, Toronto, Ontario, Canada
    Invest Ophthalmol Vis Sci 49:2737-42. 2008
    ..A novel assay of vision was used to determine how the form and extent of retinal disease affects visual phenotype in mice...
  52. pmc Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 49:4573-7. 2008
    ..To study the topography of photoreceptor loss early in the course of Leber congenital amaurosis (LCA) caused by RPE65 mutations...
  53. pmc Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin
    Saloni Walia
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA
    Am J Ophthalmol 147:111-115.e1. 2009
    ....
  54. ncbi request reprint Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors
    Andrew J Lotery
    Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Hum Gene Ther 13:689-96. 2002
    ..rFIV vectors have therapeutic potential and could be exploited to develop gene therapy for the human eye...
  55. pmc Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)
    Annie P Chiang
    Department of Computer and Electrical Engineering, University of Iowa, Iowa City, IA 52242, USA
    Am J Hum Genet 75:475-84. 2004
    ..These data illustrate the power of comparative genomic analysis for the study of human disease and identifies a novel BBS gene...
  56. pmc Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells
    Jessica M Skeie
    Department of Biomedical Engineering, University of Iowa College of Engineering, Iowa City, Iowa, USA
    Invest Ophthalmol Vis Sci 51:5336-42. 2010
    ..In this study, the authors sought to evaluate the pathophysiologic roles of complement components C3a and C5a in the human choroid in AMD...
  57. pmc From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology
    Arlene V Drack
    Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA
    Am J Ophthalmol 149:10-17. 2010
    ..To review the current state of molecular genetic testing as it relates to pediatric ophthalmology and to discuss its uses...
  58. pmc Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration
    Robert F Mullins
    Carver Family Center for Macular Degeneration, Department of Ophthalmology and Visual Sciences, The University of Iowa, 4135E MERF, 375 Newton Rd, Iowa City, IA 52242, USA
    Exp Eye Res 89:767-73. 2009
    ..These results indicate that C1INH protein is present in the retina and choroid, where it may regulate complement activation...
  59. pmc Which Leber congenital amaurosis patients are eligible for gene therapy trials?
    Arlene V Drack
    University of Iowa Hospitals and Clinics, Iowa City, 52242, USA
    J AAPOS 13:463-5. 2009
    ..To enroll, subjects must have both disease-causing RPE65 alleles identified. Determining which patients have true disease-causing mutations requires a multistep approach...
  60. ncbi request reprint Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype
    Sharon B Schwartz
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 46:734-43. 2005
    ..To investigate the retinal disease expression in USH2C, the subtype of Usher syndrome type 2 recently shown to be caused by mutation in the VLGR1 gene, and compare results with those from USH2A, a more common cause of Usher syndrome...
  61. ncbi request reprint Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23
    Kean T Oh
    Department of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina, USA
    Am J Ophthalmol 136:306-13. 2003
    ..To examine the difference in expression of retinitis pigmentosa from mutations at codon 23 and codon 347 or rhodopsin; to report a novel mutation in rhodopsin...
  62. ncbi request reprint Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Ophthalmology 114:895-8. 2007
    ..To determine the treatment potential in Leber congenital amaurosis (LCA) resulting from an RPGRIP1 (retinitis pigmentosa GTPase regulating-interacting protein 1) mutation, a form of LCA with recent gene therapy success in an animal model...
  63. ncbi request reprint Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
    Melissa A Fath
    Department of Pediatrics, Division of Medcal Genetics, University of Iowa, Iowa City, IA 52242, USA
    Hum Mol Genet 14:1109-18. 2005
    ..These observations suggest that the complete absence of MKKS leads to BBS while the MKS phenotype is likely to be due to specific mutations...
  64. ncbi request reprint The C677T variant in the methylenetetrahydrofolate reductase gene is not associated with disease in cohorts of pseudoexfoliation glaucoma and primary open-angle glaucoma patients from Iowa
    John H Fingert
    Department of Ophthalmology and Visual Sciences, University of Iowa, Carver College of Medicine, Iowa City, IA 52242, USA
    Ophthalmic Genet 27:39-41. 2006
  65. ncbi request reprint Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Mol Genet 13:525-34. 2004
    ..Knowledge of the human ABCA4 disease sequence will be critical for defining rates of progression, selecting appropriate patients and retinal locations for future therapy, and choosing appropriate treatment outcomes...
  66. ncbi request reprint Retinal synthesis and deposition of complement components induced by ocular hypertension
    Markus H Kuehn
    Department of Ophthalmology and Visual Sciences, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Exp Eye Res 83:620-8. 2006
    ..The results show that complement activation occurs in the retina that has been subjected to elevated IOP, and may have implications in pathophysiology of glaucoma...
  67. ncbi request reprint IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping
    George Thomas
    Department of Computer Science, University of Iowa, Iowa City, Iowa, USA
    Invest Ophthalmol Vis Sci 48:2278-84. 2007
    ..To use the power of knowledge acquisition and machine learning in the development of a collaborative computer classification system based on the features of age-related macular degeneration (AMD)...
  68. doi request reprint Familial non-arteritic anterior ischemic optic neuropathy
    Sohan Singh Hayreh
    Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242 1091, USA
    Graefes Arch Clin Exp Ophthalmol 246:1295-305. 2008
    ....
  69. ncbi request reprint Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation
    Robert F Mullins
    Center for Macular Degeneration, Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City 52242, USA
    Arch Ophthalmol 123:1588-94. 2005
    ....
  70. ncbi request reprint Prioritizing regions of candidate genes for efficient mutation screening
    Terry A Braun
    Department of Biomedical Engineering, University of Iowa, Iowa City, IA 52242, USA
    Hum Mutat 27:195-200. 2006
    ..These results suggest that prioritization strategies such as PAR can accelerate disease-gene identification through more efficient use of screening resources...
  71. ncbi request reprint The natural history of stargardt disease with specific sequence mutation in the ABCA4 gene
    Mohamed A Genead
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA
    Invest Ophthalmol Vis Sci 50:5867-71. 2009
    ..To determine longitudinal changes in fundus appearance and visual function in patients with Stargardt with at least one allelic mutation (Gly1961Glu) in the ABCA4 gene...
  72. pmc ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 46:4739-46. 2005
    ..To study the parapapillary retinal region in patients with ABCA4-associated retinal degenerations...
  73. pmc Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
    Darryl Y Nishimura
    Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
    Am J Hum Genet 86:686-95. 2010
    ..Finally, localization of C2ORF71 to primary cilia in cultured cells suggests that the protein is likely to localize to the connecting cilium or outer segment of photoreceptor cells...
  74. pmc Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations
    Tomas S Aleman
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Invest Ophthalmol Vis Sci 48:1319-29. 2007
    ..To determine macular pigment (MP) optical density (OD) in patients with ABCA4-associated retinal degenerations (ABCA4-RD) and the response of MP and vision to supplementation with lutein...
  75. ncbi request reprint Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigree
    John H Fingert
    Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
    Ophthalmic Genet 28:1-7. 2007
    ..To identify the genetic factors associated with familial non-arteritic anterior ischemic optic neuropathy (NA-AION) in a large pedigree...
  76. ncbi request reprint Complement factor H polymorphism p.Tyr402His and cuticular Drusen
    Michael A Grassi
    Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, USA
    Arch Ophthalmol 125:93-7. 2007
    ..To determine the histidine frequency in patients with the cuticular drusen phenotype of age-related macular degeneration (AMD)...
  77. ncbi request reprint A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa
    Sandeep Grover
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Ophthalmology 111:1910-6. 2004
    ..To define ophthalmic findings in a family with autosomal dominant retinitis pigmentosa and a novel IMPDH1 gene mutation...
  78. ncbi request reprint Chromatic pupil responses: preferential activation of the melanopsin-mediated versus outer photoreceptor-mediated pupil light reflex
    Randy Kardon
    Department of Ophthalmology and Visual Science, University of Iowa, USA
    Ophthalmology 116:1564-73. 2009
    ..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...
  79. pmc Anti-γ-enolase autoimmune retinopathy manifesting in early childhood
    Audrey C Ko
    Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, 52242, USA
    Arch Ophthalmol 128:1590-5. 2010
    ..To describe the clinical, molecular, and serologic findings of a case in which autoimmune retinopathy and early-onset heritable retinal degeneration were both considered in the differential diagnosis...
  80. ncbi request reprint VSX1: a gene for posterior polymorphous dystrophy and keratoconus
    Elise Heon
    Cellular and Molecular Division, Toronto Western Research Institute, Toronto Western Hospital, 399 Bathurst Street, Toronto, Ontario, Canada M5T 2S8
    Hum Mol Genet 11:1029-36. 2002
    ..These data define the molecular basis of two important corneal dystrophies and reveal the importance of the CVC domain in the human retina...
  81. ncbi request reprint Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome
    Alan F Wright
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
    Hum Mutat 24:439. 2004
    ....
  82. ncbi request reprint Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy
    Samuel G Jacobson
    Scheie Eye Institute, 51 N 39th St, Philadelphia, PA 19104, USA
    Arch Ophthalmol 120:376-9. 2002
    ..To determine the molecular basis of a retinopathy previously described as dominant macular subretinal neovascularization with peripheral retinal degeneration...
  83. ncbi request reprint QRX, a novel homeobox gene, modulates photoreceptor gene expression
    Qing Liang Wang
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Hum Mol Genet 13:1025-40. 2004
    ..In addition, the finding of rare heterozygous QRX sequence changes in three individuals with retinal degeneration raises the possibility that QRX may be involved in disease pathogenesis...
  84. ncbi request reprint Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil
    Adriana Silva Borges
    Department of Ophthalmology and Otorrinolaryngology, Glaucoma Service University of São Paulo, Sao Paulo, Brazil
    J Glaucoma 11:51-6. 2002
    ..This study examined the two genes known to cause Rieger syndrome, PITX2 and FOXC1, for mutations in five Brazilian families with Axenfeld-Rieger syndrome...
  85. ncbi request reprint Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene
    Byron L Lam
    Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida 33136, USA
    Am J Ophthalmol 144:157-9. 2007
    ..To report mild enhanced s-cone syndrome (ESCS) associated with a novel heterozygous mutation of the NR2E3 gene...
  86. ncbi request reprint Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse
    Lawrence H Pinto
    Department of Neurobiology and Physiology and Center for Functional Genomics, Northwestern University, Evanston, IL 60208, USA
    Vis Neurosci 22:619-29. 2005
    ....
  87. ncbi request reprint Novel de novo mutation in a patient with Best macular dystrophy
    Marsha A Apushkin
    Department of Ophthalmology and Visual Science, University of Illinois at Chicago, USA
    Arch Ophthalmol 124:887-9. 2006
    ..To report a novel de novo vitelliform macular dystrophy (VMD2) mutation in a patient with Best macular dystrophy...
  88. pmc Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease
    Karina E Guziewicz
    Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 48:1959-67. 2007
    ..The disease shares a number of clinical and pathologic similarities with Best macular dystrophy (BMD), and cmr is proposed as a new large animal model for Best disease...
  89. ncbi request reprint LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States
    John H Fingert
    Am J Ophthalmol 144:974-975. 2007
  90. ncbi request reprint Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping
    Robert A Honkanen
    Department of Ophthalmology, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
    Am J Ophthalmol 143:788-794. 2007
    ..To describe a multigenerational family with autosomal dominant inheritance of cavitary optic nerve head (ONH) anomalies and abnormal ONH vasculature...
  91. ncbi request reprint Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure
    Allan R Shepard
    Glaucoma Research, Alcon Research, Ltd, Fort Worth, TX 76134, USA
    Hum Mol Genet 16:609-17. 2007
    ..This is the first demonstration of a disease resulting from mutation-induced exposure of a cryptic signaling site that causes mislocalization of mutant protein to peroxisomes and the first disease-gene-based animal model of human POAG...
  92. ncbi request reprint The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice
    Li Fu
    F M Kirby Center for Molecular Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Hum Mol Genet 16:2411-22. 2007
    ..Further, they suggest that alterations in the ECM may stimulate complement activation, demonstrating a potential connection between these two etiologic factors in macular degeneration...
  93. ncbi request reprint Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation
    David A Mackey
    Centre for Eye Research Australia, University of Melbourne, Melbourne, Australia
    Arch Ophthalmol 121:1172-80. 2003
    ..To investigate the phenotype and age-related penetrance of primary open-angle glaucoma (POAG) in Australian families with the myocilin mutation Thr377Met...
  94. ncbi request reprint The optic nerve head in myocilin glaucoma
    Alex W Hewitt
    Department of Ophthalmology, Flinders University, Adelaide, Australia
    Invest Ophthalmol Vis Sci 48:238-43. 2007
    ..Approximately 1 in 30 unselected patients with open-angle glaucoma (OAG) have a mutation in the myocilin gene. The purpose of this study was to describe the morphologic features of the optic nerve head (ONH) in myocilin glaucoma...
  95. ncbi request reprint Tonography demonstrates reduced facility of outflow of aqueous humor in myocilin mutation carriers
    Colleen H Wilkinson
    Center for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, 32 Gisbourne Street, East Melbourne, Australia 3002
    J Glaucoma 12:237-42. 2003
    ..To demonstrate the effect in vivo of the myocilin gene mutation Thr377Met on outflow facility of aqueous humor, as measured by tonography...
  96. ncbi request reprint Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis
    Elias I Traboulsi
    Ophthalmic Genet 27:113-5. 2006
    ..This commentary explores the implications of this recent discovery and revisits the classification of LCA...
  97. pmc Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans
    Barbara Zangerl
    Clinical Studies Philadelphia, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Genomics 88:551-63. 2006
    ..This study provides strong evidence that a mutation in the novel gene PRCD is the cause of autosomal recessive retinal degeneration in both dogs and humans...
  98. ncbi request reprint Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family
    Danielle L Healey
    Department of Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
    J Glaucoma 13:304-11. 2004
    ..We wished to determine the attitudes of affected and unaffected family members to the use of predictive DNA testing in glaucoma...

Research Grants6

  1. Fibulin-Associated Age-Related Macular Degeneration
    Edwin Stone; Fiscal Year: 2005
    ....
  2. Fibulin-Associated Age-Related Macular Degeneration
    Edwin Stone; Fiscal Year: 2006
    ....
  3. Fibulin-Associated Age-Related Macular Degeneration
    Edwin Stone; Fiscal Year: 2007
    ....
  4. Fibulin-Associated Age-Related Macular Degeneration
    Edwin Stone; Fiscal Year: 2009
    ....
  5. MOLECULAR GENETICS OF AGE RELATED MACULAR DEGENERATION
    Edwin M Stone; Fiscal Year: 2010
    ..We will also investigate the mechanism by which genetic mutations cause AMD so that more specific diagnostic methods and better treatments can be developed. ..