T S Aleman

Summary

Affiliation: University of Pennsylvania
Country: USA

Publications

  1. 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
  2. doi request reprint Retinal structure in vitamin A deficiency as explored with multimodal imaging
    Tomas S Aleman
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, 51 N 39th Street, Philadelphia, PA, 19104, USA
    Doc Ophthalmol 127:239-43. 2013
  3. pmc 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
  4. doi request reprint 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
  5. doi request reprint Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets
    T S Aleman
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Eye (Lond) 23:230-3. 2009
  6. doi 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
  7. 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
  8. ncbi request reprint 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
  9. pmc Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina
    J Bennett
    Department of Ophthalmology, F M Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, 51 North 39th Street, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 96:9920-5. 1999
  10. ncbi request reprint Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome
    T S Aleman
    Department of Ophthalmology, Scheie Eye Institute, 51 N. 39th Street, University of Pennsylvania, Philadelphia, PA 19104, USA
    Invest Ophthalmol Vis Sci 42:1873-81. 2001

Detail Information

Publications65

  1. 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...
  2. doi request reprint Retinal structure in vitamin A deficiency as explored with multimodal imaging
    Tomas S Aleman
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, 51 N 39th Street, Philadelphia, PA, 19104, USA
    Doc Ophthalmol 127:239-43. 2013
    ..To define the retinal structural abnormalities in a patient with vitamin A deficiency...
  3. pmc 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...
  4. doi request reprint 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...
  5. doi request reprint Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets
    T S Aleman
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Eye (Lond) 23:230-3. 2009
    ..To define molecular and ophthalmic features of a rare phenotype in autosomal dominant (ad) retinitis pigmentosa (RP)...
  6. doi 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...
  7. 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...
  8. ncbi request reprint 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...
  9. pmc Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina
    J Bennett
    Department of Ophthalmology, F M Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, 51 North 39th Street, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 96:9920-5. 1999
    ..The findings further characterize the retinal cell tropism of rAAV. They also support the development of studies aimed ultimately at treating inherited retinal degeneration by using rAAV-mediated gene therapy...
  10. ncbi request reprint Macular pigment and lutein supplementation in retinitis pigmentosa and Usher syndrome
    T S Aleman
    Department of Ophthalmology, Scheie Eye Institute, 51 N. 39th Street, University of Pennsylvania, Philadelphia, PA 19104, USA
    Invest Ophthalmol Vis Sci 42:1873-81. 2001
    ..There was no change in central vision after 6 months of lutein supplementation, but long-term influences on the natural history of these retinal degenerations require further study...
  11. 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...
  12. pmc 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...
  13. ncbi request reprint 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...
  14. ncbi request reprint 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...
  15. ncbi request reprint Augmented rod bipolar cell function in partial receptor loss: an ERG study in P23H rhodopsin transgenic and aging normal rats
    T S Aleman
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, 51 North 39th Street, Philadelphia, PA 19104, USA
    Vision Res 41:2779-97. 2001
    ..We propose that changes at rod-RB synapses compensate for the partial loss of rod photoreceptors in senescence and in early stages of retinal degeneration...
  16. ncbi request reprint Melatonin delays photoreceptor degeneration in the rds/rds mouse
    F Q Liang
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania School of Medicine, Philadelphia 19104, USA
    Neuroreport 12:1011-4. 2001
    ..Melatonin treatment significantly delayed photoreceptor loss and reduced the number of apoptotic photoreceptors. Further studies should determine if melatonin will have potential for the treatment of certain human retinal degenerations...
  17. 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...
  18. 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...
  19. 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...
  20. ncbi request reprint 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
    ....
  21. doi request reprint 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...
  22. ncbi request reprint 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
    ....
  23. ncbi request reprint 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...
  24. doi request reprint 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...
  25. pmc 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)...
  26. ncbi request reprint 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...
  27. pmc 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
    ....
  28. pmc 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...
  29. 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...
  30. pmc 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...
  31. pmc 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...
  32. doi request reprint 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...
  33. 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...
  34. pmc 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...
  35. pmc 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...
  36. doi request reprint 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)...
  37. ncbi request reprint 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
    ....
  38. 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
    ....
  39. ncbi request reprint 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...
  40. 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...
  41. 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...
  42. ncbi request reprint 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...
  43. 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...
  44. pmc 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...
  45. ncbi request reprint 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 request reprint 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 request reprint Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload
    Joshua L Dunaief
    F M Kirby Center for Molecular Ophthalmology, Philadelphia, Pennsylvania, USA
    Ophthalmology 112:1062-5. 2005
    ..To provide the first ophthalmic case report of a Caucasian patient with the rare autosomal recessive disease aceruloplasminemia, which results in iron overload in the retina, brain, and pancreas...
  48. 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...
  49. 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...
  50. pmc 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
    ....
  51. pmc 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...
  52. doi request reprint 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...
  53. ncbi request reprint Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa
    F Q Liang
    F. M. Kirby Center for Molecular Ophthalmology, Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Ther 4:461-72. 2001
    ..GFP. The discordance of functional and structural results, especially in the rat models, points to the need for a greater understanding of the mechanism of action of CNTF before human application can be considered...
  54. pmc 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...
  55. pmc 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...
  56. ncbi request reprint 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
    ....
  57. pmc Subconjunctivally implantable hydrogels with degradable and thermoresponsive properties for sustained release of insulin to the retina
    Gauri P Misra
    Department of Pharmaceutical Sciences, School of Pharmacy, Thomas Jefferson University, 130 South 9th Street, Philadelphia, PA 19107, USA
    Biomaterials 30:6541-7. 2009
    ..These subconjunctivally implantable hydrogels have potential for long-term periocular delivery of insulin or other drugs to treat diabetic retinopathy and other retinal diseases...
  58. ncbi request reprint 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...
  59. pmc 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...
  60. pmc 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...
  61. pmc 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
    ..The GUCY1*B chicken, which carries a null mutation in the retGC1 gene, is blind at hatching and serves as an animal model for the study of LCA1 pathology and potential treatments in humans...
  62. pmc 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...
  63. 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
    ....
  64. pmc Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation
    Samuel G Jacobson
    Br J Ophthalmol 91:699-701. 2007