ARTUR CIDECIYAN

Summary

Affiliation: University of Pennsylvania
Country: USA

Publications

  1. ncbi Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 110:E517-25. 2013
  2. ncbi Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 53:841-52. 2012
  3. ncbi Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man
    A V Cideciyan
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 95:328-33. 1998
  4. ncbi 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
  5. ncbi Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia 19104, and Howard Hughes Medical Institute, University of Iowa Hospitals and Clinics, Iowa City 52242, USA
    J Opt Soc Am A Opt Image Sci Vis 24:1457-67. 2007
  6. ncbi In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa
    Artur V Cideciyan
    Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 102:5233-8. 2005
  7. ncbi ABCA4 disease progression and a proposed strategy for gene therapy
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Mol Genet 18:931-41. 2009
  8. ncbi Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Hum Mutat 28:1074-83. 2007
  9. ncbi Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 105:15112-7. 2008
  10. ncbi 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

Research Grants

  1. VISUAL CYCLE IN HUMAN PHOTORECEPTOR AND RPE DISEASE
    ARTUR CIDECIYAN; Fiscal Year: 2003
  2. Visual cycle in human photoreceptor and RPE disease
    ARTUR CIDECIYAN; Fiscal Year: 2007
  3. Visual cycle in human photoreceptor and RPE disease
    Artur V Cideciyan; Fiscal Year: 2010

Detail Information

Publications66

  1. ncbi Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 110:E517-25. 2013
    ..The effects of gene augmentation therapy are complex and suggest a need for a combinatorial strategy in RPE65-LCA to not only improve function in the short term but also slow retinal degeneration in the long term...
  2. ncbi Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 53:841-52. 2012
    ..To measure macular visual function in patients with unstable fixation, to define the photoreceptor source of this function, and to estimate its test-retest repeatability as a prerequisite to clinical trials...
  3. ncbi Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man
    A V Cideciyan
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 95:328-33. 1998
    ..Cones may rely mainly on regeneration for the inactivation of photolyzed visual pigment, but RK also contributes to cone recovery...
  4. ncbi 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...
  5. ncbi Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia 19104, and Howard Hughes Medical Institute, University of Iowa Hospitals and Clinics, Iowa City 52242, USA
    J Opt Soc Am A Opt Image Sci Vis 24:1457-67. 2007
    ....
  6. ncbi In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa
    Artur V Cideciyan
    Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 102:5233-8. 2005
    ..These experiments provide a platform to study mechanisms of neuronal injury, repair, compensation, and degeneration. The data also argue for a gene-specific clinical trial of light reduction in human rhodopsin disease...
  7. ncbi ABCA4 disease progression and a proposed strategy for gene therapy
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Mol Genet 18:931-41. 2009
    ..Genotype-based inclusion/exclusion criteria and prediction of the age of retina-wide disease initiation will be invaluable for selecting appropriate candidates for clinical trials in ABCA4 disease...
  8. ncbi Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Hum Mutat 28:1074-83. 2007
    ....
  9. ncbi Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 105:15112-7. 2008
    ..Cone-sensitivity recovery time was rapid. These results demonstrate dramatic, albeit imperfect, recovery of rod- and cone-photoreceptor-based vision after RPE65 gene therapy...
  10. ncbi 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...
  11. ncbi Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year
    Artur V Cideciyan
    Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Gene Ther 20:999-1004. 2009
    ..The safety and efficacy of human retinal gene transfer with rAAV2-RPE65 vector extends to at least 1 year posttreatment...
  12. ncbi Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3
    Artur V Cideciyan
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 44:1268-74. 2003
    ..To determine the relationship between cone deactivation kinetics in patients with the enhanced S cone syndrome (ESCS) caused by mutations in NR2E3 and the immunoreactivity to G-protein-coupled receptor kinase 1 (GRK1) and GRK7...
  13. ncbi Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man
    A V Cideciyan
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia 19104, USA
    Vis Neurosci 17:667-78. 2000
    ..Pathways in addition to 11-cis-RDH likely provide 11-cis-retinal for rods and cones and can maintain normal kinetics of visual recovery but only under certain constraints and less efficiently for cone than rod function...
  14. ncbi Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy
    Artur V Cideciyan
    Scheie Eye Institute, University of Pennsylvania, 51 North 39th St, Philadelphia, PA 19104, USA
    Prog Retin Eye Res 29:398-427. 2010
    ..This article reviews the current knowledge on retinal degeneration and visual dysfunction in animal models and human patients with RPE65 disease, and examines the consequences of gene therapy in terms of improvement of vision reported...
  15. ncbi Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man
    A V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 95:7103-8. 1998
    ..Class A mutant alleles behave as if cytotoxic; class B mutants can be relatively innocuous and epigenetic factors may play a major role in the retinal degeneration...
  16. ncbi 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...
  17. ncbi In utero gene therapy rescues vision in a murine model of congenital blindness
    Nadine S Dejneka
    F.M. Kirby Center and Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, 51 N. 39th Street, Philadelphia, PA 19104-2689, USA
    Mol Ther 9:182-8. 2004
    ..The results demonstrate AAV-mediated correction of the deficit and suggest that in utero retinal gene delivery may be a useful approach for treating a variety of blinding congenital retinal diseases...
  18. ncbi 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...
  19. ncbi Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial
    William W Hauswirth
    Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
    Hum Gene Ther 19:979-90. 2008
    ..99). Comparisons are drawn between the present work and two other studies of ocular gene therapy for RPE65-LCA that were carried out contemporaneously and reported...
  20. ncbi Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis
    Tomas S Aleman
    Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 45:1259-71. 2004
    ..To determine the impairment of the transient pupillary light reflex (TPLR) due to severe retinal dysfunction and degeneration in a murine model of Leber congenital amaurosis (LCA) and in patients with the disease...
  21. ncbi Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis
    Alejandro J Roman
    Department of Ophthalmology, Scheie Eye Institute, Philadelphia, PA, USA
    Mol Vis 13:1701-10. 2007
    ..Progress in early-phase clinical trials of RPE65-LCA prompted us to begin development of an in vivo bioassay of clinical grade vector stability for later-phase trials...
  22. ncbi 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...
  23. ncbi 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...
  24. ncbi Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype
    Tomas S Aleman
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Exp Eye Res 74:737-45. 2002
    ....
  25. ncbi Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures
    Alejandro J Roman
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Exp Eye Res 80:259-72. 2005
    ....
  26. ncbi Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene
    Waldo Herrera
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 49:2651-60. 2008
    ..To determine the retinal phenotype of Usher syndrome type III (USH3A) caused by clarin-1 (CLRN1) gene mutations in a non-Finnish population...
  27. ncbi Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations
    Rafael C Caruso
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 51:5304-13. 2010
    ..To quantify the retinal disease in Rpe65-deficient mice across a wide age span and compare the results to those in humans with Leber congenital amaurosis (LCA) caused by RPE65 mutations...
  28. ncbi Macular pigment and lutein supplementation in choroideremia
    Jacque L Duncan
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Exp Eye Res 74:371-81. 2002
    ..There was no short-term change in the central vision of the patients on the supplement, but long-term influences of lutein supplementation on disease natural history warrant further study...
  29. ncbi Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations
    Tomas S Aleman
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 49:1580-90. 2008
    ..To determine the underlying retinal micropathology in subclasses of autosomal dominant retinitis pigmentosa (ADRP) caused by rhodopsin (RHO) mutations...
  30. ncbi 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
    ....
  31. ncbi Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation
    Geoffrey K Aguirre
    Department of Neurology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
    PLoS Med 4:e230. 2007
    ..We therefore studied the cortex of RPE65-mutant dogs before and after retinal gene therapy. Then, we inquired whether there is visual pathway integrity and responsivity in adult humans with LCA due to RPE65 mutations (RPE65-LCA)...
  32. ncbi Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials
    Alejandro J Roman
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Physiol Meas 28:N51-6. 2007
    ..With this advance, inclusion and exclusion criteria can be developed and safety as well as efficacy outcomes measured in upcoming treatment trials of severe retinal blindness...
  33. ncbi Human cone photoreceptor dependence on RPE65 isomerase
    Samuel G Jacobson
    Scheie Eye Institute, Department of Ophthalmology, School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 104:15123-8. 2007
    ....
  34. ncbi CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy
    Tomas S Aleman
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 50:5944-54. 2009
    ..To define the phenotype of the retinal degeneration associated with mutations in the CERKL gene...
  35. ncbi Normal central retinal function and structure preserved in retinitis pigmentosa
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 51:1079-85. 2010
    ..To determine whether normal function and structure, as recently found in forms of Usher syndrome, also occur in a population of patients with nonsyndromic retinitis pigmentosa (RP)...
  36. ncbi Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Vis 15:1098-106. 2009
    ..To determine the retinal disease expression in the rare form of Leber congenital amaurosis (LCA) caused by Lebercilin (LCA5) mutation...
  37. ncbi 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...
  38. ncbi Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Mol Genet 17:2405-15. 2008
    ..The results point to the photoreceptor cell as the therapeutic target for USH treatment trials, such as MYO7A somatic gene replacement therapy...
  39. ncbi 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...
  40. ncbi Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 50:1886-94. 2009
    ..To study retinal microstructure in Usher Syndrome type 1B (USH1B) caused by MYO7A mutations as a prelude to treatment initiatives...
  41. ncbi The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration
    Ann H Milam
    Scheie Eye Institute and F M Kirby Center for Molecular Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 99:473-8. 2002
    ..Degeneration of the NR2E3 retina may result from defective development, known S cone fragility, or abnormal maintenance of mature photoreceptors...
  42. ncbi 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...
  43. ncbi Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia 19104, USA
    Hum Mol Genet 13:1893-902. 2004
    ..The later-stage dysplastic appearance suggests a previously unrecognized proliferative response in human retinal degeneration...
  44. ncbi Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection
    Samuel G Jacobson
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Ther 13:1074-84. 2006
    ..5-log unit range of vector doses proved efficacious. The efficacy and toxicity limits defined in this study lead to suggestions for the design of a subretinal AAV-2/2.RPE65 human trial of RPE65-associated LCA...
  45. ncbi Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 47:4113-20. 2006
    ..The recent report of a mouse model for CHM prompts the need for reassessment of the human disease in anticipation of treatment initiatives...
  46. ncbi Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Gene Ther 17:845-58. 2006
    ..RPE65. The potential value of foveal treatment for LCA and other retinal degenerations warrants further research into how to achieve gene transfer without retinal injury from surgical detachment of the retina...
  47. ncbi 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...
  48. ncbi 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...
  49. ncbi 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...
  50. ncbi 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...
  51. ncbi Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining
    Samuel G Jacobson
    Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA
    Invest Ophthalmol Vis Sci 52:70-9. 2011
    ..To determine the human retinal phenotype caused by mutations in the gene encoding AIPL1 (Aryl hydrocarbon receptor-interacting protein-like 1) now that there are proof-of-concept results for gene therapy success in Aipl1-deficient mice...
  52. ncbi Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations
    Tomas S Aleman
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 48:4759-65. 2007
    ..To investigate in vivo the retinal microstructure in X-linked retinitis pigmentosa (XLRP) caused by RPGR mutations as a prelude to treatment initiatives for this common form of RP...
  53. ncbi In vivo micropathology of Best macular dystrophy with optical coherence tomography
    Michael J Pianta
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, 51 N, 39th Street, Philadelphia, PA 19104, USA
    Exp Eye Res 76:203-11. 2003
    ....
  54. ncbi Nonhuman primate models for diabetic ocular neovascularization using AAV2-mediated overexpression of vascular endothelial growth factor
    Corinna Lebherz
    Department of Medical Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 190104-6069, USA
    Diabetes 54:1141-9. 2005
    ..Nonhuman primate models will be useful in testing long-term safety and efficacy of novel therapeutic agents for blinding neovascular diseases...
  55. ncbi Early age-related maculopathy and self-reported visual difficulty in daily life
    Kay Scilley
    Department of Ophthalmology, School of Medicine, University of Alabama at Birmingham, 700 S 18th Street, Birmingham, AL 35294-0009, USA
    Ophthalmology 109:1235-42. 2002
    ..Scotopic dysfunction, a functional marker of early ARM, is linked to reported night driving problems. Even when acuity impairment occurs in one eye only, patients report difficulties with day driving and near and far vision tasks...
  56. ncbi Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness
    Gregory M Acland
    Baker Institute, Cornell University, Hungerford Hill Road, Ithaca, NY 14853, USA
    Mol Ther 12:1072-82. 2005
    ..Successful, stable restoration of rod and cone photoreceptor function in these dogs has important implications for treatment of human patients affected with Leber congenital amaurosis caused by RPE65 mutations...
  57. ncbi Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa
    James W Kijas
    James A Baker Institute for Animal Health, Cornell University, 47 Hungerford Hill Road, Ithaca, NY 14853, USA
    Proc Natl Acad Sci U S A 99:6328-33. 2002
    ..The RHO mutant dog also becomes the large animal needed for preclinical trials of therapies for a major subset of human retinopathies...
  58. ncbi 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
    ....
  59. ncbi Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness
    Melissa L Williams
    Department of Neuroscience, University of Florida McKnight Brain Institute, Gainesville, Florida, USA
    PLoS Med 3:e201. 2006
    ..These results represent a first step toward development of gene therapies for one of the more common forms of childhood blindness...
  60. ncbi Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration
    Caroline Hayward
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Hum Mol Genet 12:2657-67. 2003
    ..These results indicate a novel disease mechanism involving abnormal adhesion between RPE and Bruch's membrane...
  61. ncbi In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development
    Hong Cheng
    Neuroscience Graduate Program, Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor 48105, USA
    Hum Mol Genet 15:2588-602. 2006
    ..Our studies reveal a critical role of NR2E3 in establishing functional specificity of NRL-expressing photoreceptor precursors during retinal neurogenesis...
  62. ncbi ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
    Veronique B D Kitiratschky
    Institute for Ophthalmic Research, Centre for Ophthalmology, University Tübingen, Tubingen, Germany
    Eur J Hum Genet 16:812-9. 2008
    ....
  63. ncbi Lifespan and mitochondrial control of neurodegeneration
    Alan F Wright
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Nat Genet 36:1153-8. 2004
    ..This provides a new and unifying framework for investigating neurodegenerative disorders...
  64. ncbi Outcome measures and their application in clinical trials for retinal degenerative diseases: outline, review, and perspective
    Gerald A Fishman
    Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, Illinois, USA
    Retina 25:772-7. 2005
  65. ncbi Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration
    Xinhua Shu
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Adv Exp Med Biol 572:41-8. 2006
  66. ncbi Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation
    Samuel G Jacobson
    Br J Ophthalmol 91:699-701. 2007

Research Grants8

  1. VISUAL CYCLE IN HUMAN PHOTORECEPTOR AND RPE DISEASE
    ARTUR CIDECIYAN; Fiscal Year: 2003
    ....
  2. Visual cycle in human photoreceptor and RPE disease
    ARTUR CIDECIYAN; Fiscal Year: 2007
    ..The long-term goal of the research program is to unravel the pathophysiologic mechanisms in human hereditary retinal degenerations, contribute to the design of mechanism-specific therapies, and develop means to test their effectiveness. ..
  3. Visual cycle in human photoreceptor and RPE disease
    Artur V Cideciyan; Fiscal Year: 2010
    ..Mutations in ABCA4 gene cause one of the most common forms of retinal degeneration and the goal of the proposed research is to define the subset of patients with ABCA4 disease who are likely to benefit from gene replacement therapy. ..