Research Topics
Genomes and Genes | Edwin StoneSummaryAffiliation: University of Iowa Country: USA Publications
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Publications
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophyChristine 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...
Autosomal recessive retinitis pigmentosa caused by mutations in the MAK geneEdwin 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...- Evaluation of variants in the selectin genes in age-related macular degenerationRobert 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... - Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usageAllan 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... 
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophyE 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...- Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial LectureEdwin 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.... - Genetic testing for inherited eye diseaseEdwin 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 - Macular degenerationEdwin 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... - Case of Stargardt disease caused by uniparental isodisomyJohn H Fingert
Dept. of Ophthalmology, University of Iowa College of Medicine, Iowa City, IA 52242, USA
Arch Ophthalmol 124:744-5. 2006 - Progress toward effective treatments for human photoreceptor degenerationsEdwin 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.... - Missense variations in the fibulin 5 gene and age-related macular degenerationEdwin 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... - Variations in the myocilin gene in patients with open-angle glaucomaWallace 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... - Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndromeEdwin 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... - Allelic variation in the VMD2 gene in best disease and age-related macular degenerationA 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)... - Molecular genetics of age-related macular degenerationE 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... - Clinical phenotypes in carriers of Leber congenital amaurosis mutationsJennifer A Galvin
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA
Ophthalmology 112:349-56. 2005..Observations of phenotypic associations with specific disease-causing sequence variations in carriers have potential practical value for molecular screening strategies of patients with LCA... - CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosisTimothy 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)... - Evaluation of genotype-phenotype associations in leber congenital amaurosisJennifer A Galvin
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA
Retina 25:919-29. 2005..These findings have practical value for genetic screening strategies for LCA patients based upon phenotype as well as for counseling patients on their visual prognosis... - Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosaSaloni 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... - Chromatic pupillometry in patients with retinitis pigmentosaRandy 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)... - Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmusJohn 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... - RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expressionSamuel 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... - 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)... - Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosisSirichai 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)... - ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophyGerald 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... - Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosisAnn 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... - A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutationThomas 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... - Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucomaWallace 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... - Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402HisMichael 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... - Myocilin glaucomaJohn 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... - Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatusKean T Oh
Department of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina, USA
Retina 24:920-8. 2004..Thus, the ERG provides clinically important information of retinal function for STGD/FF and, as such, is still indicated as part of the evaluation of these patients... - Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutationsSandeep 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..In isolated family members with PD, a mutation in this gene may occur even in the absence of a clinically discernible macular lesion... - Defining the residual vision in leber congenital amaurosis caused by RPE65 mutationsSamuel 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... - Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1CDavid 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... - Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome geneDarryl 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... - Predicting the pathogenicity of RPE65 mutationsA 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... - Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degenerationAmir 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... - De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosaSharon 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... - Differential macular and peripheral expression of bestrophin in human eyes and its implication for best diseaseRobert 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... - Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy successSamuel G Jacobson
Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
Proc Natl Acad Sci U S A 102:6177-82. 2005.... - Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectorsAndrew 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... - Visual function testing: a quantifiable visually guided behavior in miceStewart 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... - Transcript annotation prioritization and screening system (TrAPSS) for mutation screeningBrian 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... - 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... - Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutationsSamuel 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... - Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal laminationSamuel 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... - Complement component C5a activates ICAM-1 expression on human choroidal endothelial cellsJessica 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... - Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisinSaloni Walia
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA
Am J Ophthalmol 147:111-115.e1. 2009.... - From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmologyArlene 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... - Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degenerationRobert 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... - 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... - Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosaJohn 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... - IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotypingGeorge 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)... - 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... - Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23Kean T Oh
Department of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina, USA
Am J Ophthalmol 136:306-13. 2003..Therefore, both of these variables must be considered in prognostic counseling and subject recruitment for future therapeutic trials... - Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotypeSharon 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... - Mkks-null mice have a phenotype resembling Bardet-Biedl syndromeMelissa 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... - 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 IowaJohn 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 - Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potentialSamuel 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... - Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by lightStewart 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... - Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequenceArtur 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... - Retinal synthesis and deposition of complement components induced by ocular hypertensionMarkus 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... - Familial non-arteritic anterior ischemic optic neuropathySohan 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.... - The natural history of stargardt disease with specific sequence mutation in the ABCA4 geneMohamed 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... - Prioritizing regions of candidate genes for efficient mutation screeningTerry 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... - Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71Darryl 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... - ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retinaArtur 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... - A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosaSandeep 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... - Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlationRobert 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..The distribution of bestrophin in the RPE suggests that the protein may be mistargeted in those with Best disease who have the Y227N mutation, and that this may be a cause of the associated RPE and photoreceptor dysfunction... - Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigreeJohn 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... - Complement factor H polymorphism p.Tyr402His and cuticular DrusenMichael 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)... - Macular pigment and lutein supplementation in ABCA4-associated retinal degenerationsTomas 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... - Chromatic pupil responses: preferential activation of the melanopsin-mediated versus outer photoreceptor-mediated pupil light reflexRandy 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... - Anti-γ-enolase autoimmune retinopathy manifesting in early childhoodAudrey 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... - Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humansBarbara 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... - Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian familyDanielle L Healey
Department of Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
J Glaucoma 13:304-11. 2004..CONCLUSIONS: This study suggests that predictive glaucoma testing in appropriate circumstances is acceptable to patients and their families... - Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cuppingRobert 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... - VSX1: a gene for posterior polymorphous dystrophy and keratoconusElise 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... - Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone SyndromeAlan F Wright
MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
Hum Mutat 24:439. 2004.... - Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophySamuel 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... - Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from BrazilAdriana 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... - QRX, a novel homeobox gene, modulates photoreceptor gene expressionQing 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... - Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best diseaseKarina 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... - Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutationDavid 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. Method and.. - Novel de novo mutation in a patient with Best macular dystrophyMarsha 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... - Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosisElias I Traboulsi
Ophthalmic Genet 27:113-5. 2006..This commentary explores the implications of this recent discovery and revisits the classification of LCA... - LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United StatesJohn H Fingert
Am J Ophthalmol 144:974-975. 2007 - Tonography demonstrates reduced facility of outflow of aqueous humor in myocilin mutation carriersColleen 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... - Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouseLawrence H Pinto
Department of Neurobiology and Physiology and Center for Functional Genomics, Northwestern University, Evanston, IL 60208, USA
Vis Neurosci 22:619-29. 2005.... - The optic nerve head in myocilin glaucomaAlex 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... - The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in miceLi 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... - Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 geneByron 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... - Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressureAllan 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...
Research Grants
- Fibulin-Associated Age-Related Macular DegenerationEdwin Stone; Fiscal Year: 2007....
- Fibulin-Associated Age-Related Macular DegenerationEdwin Stone; Fiscal Year: 2009....
- MOLECULAR GENETICS OF AGE RELATED MACULAR DEGENERATIONEdwin 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. ..