M A Sandberg

Summary

Publications

  1. ncbi request reprint Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases
    Koji M Nishiguchi
    Ocular Molecular Genetics Institute and the Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Hum Mutat 25:248-58. 2005
  2. ncbi request reprint Reading speed of patients with advanced retinitis pigmentosa or choroideremia
    Michael A Sandberg
    The Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, 02114, USA
    Retina 26:80-8. 2006
  3. pmc The relationship of macular pigment optical density to serum lutein in retinitis pigmentosa
    Michael A Sandberg
    The Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 51:1086-91. 2010
  4. ncbi request reprint Disease course of patients with pericentral retinitis pigmentosa
    Michael A Sandberg
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, 02114, USA
    Am J Ophthalmol 140:100-6. 2005
  5. ncbi request reprint The association between visual acuity and central retinal thickness in retinitis pigmentosa
    Michael A Sandberg
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    Invest Ophthalmol Vis Sci 46:3349-54. 2005
  6. ncbi request reprint Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations
    Michael A Sandberg
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA
    Invest Ophthalmol Vis Sci 48:1298-304. 2007
  7. pmc Visual acuity is related to parafoveal retinal thickness in patients with retinitis pigmentosa and macular cysts
    Michael A Sandberg
    The Berman Gund Laboratory, Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 49:4568-72. 2008
  8. ncbi request reprint Acuity recovery and cone pigment regeneration after a bleach in patients with retinitis pigmentosa and rhodopsin mutations
    M A Sandberg
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114, USA
    Invest Ophthalmol Vis Sci 40:2457-61. 1999
  9. ncbi request reprint Rod and cone function in the Nougaret form of stationary night blindness
    M A Sandberg
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Boston, Mass, USA
    Arch Ophthalmol 116:867-72. 1998
  10. pmc Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene
    Michael A Sandberg
    The Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA
    Invest Ophthalmol Vis Sci 49:5532-9. 2008

Research Grants

Collaborators

Detail Information

Publications37

  1. ncbi request reprint Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases
    Koji M Nishiguchi
    Ocular Molecular Genetics Institute and the Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Hum Mutat 25:248-58. 2005
    ..Based on our findings, CNGB3 should be considered as a candidate gene to be evaluated in patients with forms of cone dysfunction, including macular degeneration...
  2. ncbi request reprint Reading speed of patients with advanced retinitis pigmentosa or choroideremia
    Michael A Sandberg
    The Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, 02114, USA
    Retina 26:80-8. 2006
    ..To quantify, account for, and enhance the reading speed of patients with generalized retinal degeneration and small central visual fields...
  3. pmc The relationship of macular pigment optical density to serum lutein in retinitis pigmentosa
    Michael A Sandberg
    The Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 51:1086-91. 2010
    ..To determine whether macular pigment optical density (MPOD) is related to serum lutein or serum zeaxanthin in patients with retinitis pigmentosa...
  4. ncbi request reprint Disease course of patients with pericentral retinitis pigmentosa
    Michael A Sandberg
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, 02114, USA
    Am J Ophthalmol 140:100-6. 2005
    ..To estimate the mean rates of decline of ocular function in patients with an atypical form of retinitis pigmentosa, termed "pericentral retinitis pigmentosa."..
  5. ncbi request reprint The association between visual acuity and central retinal thickness in retinitis pigmentosa
    Michael A Sandberg
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    Invest Ophthalmol Vis Sci 46:3349-54. 2005
    ..To determine whether visual acuity is related to central retinal thickness in patients with retinitis pigmentosa...
  6. ncbi request reprint Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations
    Michael A Sandberg
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA
    Invest Ophthalmol Vis Sci 48:1298-304. 2007
    ....
  7. pmc Visual acuity is related to parafoveal retinal thickness in patients with retinitis pigmentosa and macular cysts
    Michael A Sandberg
    The Berman Gund Laboratory, Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 49:4568-72. 2008
    ..To quantify the prevalence and effect on visual acuity of macular cysts in a large cohort of patients with retinitis pigmentosa...
  8. ncbi request reprint Acuity recovery and cone pigment regeneration after a bleach in patients with retinitis pigmentosa and rhodopsin mutations
    M A Sandberg
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114, USA
    Invest Ophthalmol Vis Sci 40:2457-61. 1999
    ..To assess visual acuity recovery times and cone photopigment regeneration kinetics after a bleach in the fovea of patients with dominant retinitis pigmentosa due to rhodopsin mutations...
  9. ncbi request reprint Rod and cone function in the Nougaret form of stationary night blindness
    M A Sandberg
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Boston, Mass, USA
    Arch Ophthalmol 116:867-72. 1998
    ..Recently, a mutation (Gly38Asp) was identified in the alpha subunit of rod transducin in members of the Nougaret pedigree affected with dominantly inherited stationary night blindness...
  10. pmc Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene
    Michael A Sandberg
    The Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA
    Invest Ophthalmol Vis Sci 49:5532-9. 2008
    ..To estimate the mean rates of ocular function loss in patients with autosomal recessive retinitis pigmentosa due to USH2A mutations...
  11. ncbi request reprint X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function
    D Sharon
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114, USA
    Invest Ophthalmol Vis Sci 41:2712-21. 2000
    ..To assess the frequency of RPGR and RP2 mutations in a set of 85 patients with X-linked retinitis pigmentosa (XLRP) and to compare the visual function of patients with mutations in RPGR versus RP2...
  12. ncbi request reprint Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1)
    E L Berson
    Berman-Gund Laboratory for the Study of Retinal Degenerations and the Ocular Molecular Genetics Institute, Harvard Medical School and the Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 42:2217-24. 2001
    ..The wide range in severity among patients with RP1 mutations indicates that other genetic or environmental factors modulate the effect of the primary mutation...
  13. ncbi request reprint Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa
    T P Dryja
    Howe Laboratory of Ophthalmology, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114
    N Engl J Med 323:1302-7. 1990
    ..Night blindness is an early symptom of retinitis pigmentosa. The rod photoreceptors are responsible for night vision and use rhodopsin as the photosensitive pigment...
  14. pmc Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures
    T Li
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 95:11933-8. 1998
    ..Vitamin A supplementation may confer therapeutic benefit by stabilizing mutant opsins through increased availability of the chromophore...
  15. ncbi request reprint Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
    M E McLaughlin
    Berman Gund Laboratory, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114
    Nat Genet 4:130-4. 1993
    ..PDE beta is the second member of the phototransduction cascade besides rhodopsin that is absent or altered as a cause of retinitis pigmentosa, suggesting that other members of this pathway may be defective in other forms of this disease...
  16. ncbi request reprint A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
    T P Dryja
    Howe Laboratory of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114
    Nature 343:364-6. 1990
    ....
  17. pmc A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)
    D H Hong
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 97:3649-54. 2000
    ..The function of RPGR is essential for the long-term maintenance of photoreceptor viability...
  18. ncbi request reprint Effects of IBMX on the ERG of the isolated perfused cat eye
    M A Sandberg
    Berman Gund Laboratory, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114
    Vision Res 27:1421-30. 1987
    ..0 mM) were also found to have elevated levels of retinal cyclic GMP. These effects of IBMX on the rod ERG are considered in the context of previously described ERGs in selected cases of human retinal degeneration...
  19. pmc Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations
    X Sun
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Gene Ther 17:117-31. 2010
    ..We propose that the vector and construct design used in this study could serve as a prototype for a human clinical trial...
  20. ncbi request reprint Absence of photoreceptor rescue with D-cis-diltiazem in the rd mouse
    Basil S Pawlyk
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 43:1912-5. 2002
    ..Because of a previous report suggesting that D-cis-diltiazem slows retinal degeneration in rd mice, this study was undertaken to examine the effect of D-cis-diltiazem on photoreceptor structure and function in this line of mice...
  21. ncbi request reprint Optical coherence tomography findings in occult macular dystrophy
    Robert J Brockhurst
    Berman Gund Laboratory for Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Am J Ophthalmol 143:516-8. 2007
    ..To determine the basis for unexplained visual acuity loss in selected patients...
  22. ncbi request reprint Natural course of ocular function in pigmented paravenous retinochoroidal atrophy
    John Y Choi
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA
    Am J Ophthalmol 141:763-5. 2006
    ..To estimate mean rates of change of ocular function in patients with pigmented paravenous retinochoroidal atrophy (PPRCA)...
  23. ncbi request reprint Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations
    Eliot L Berson
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 43:3027-36. 2002
    ....
  24. ncbi request reprint Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration
    Dror Sharon
    Ocular Molecular Genetics Institute and the Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114, USA
    Arch Ophthalmol 121:1316-23. 2003
    ..Patients One patient with ESCS, one with GFS, and 20 with CPRD...
  25. ncbi request reprint Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn
    Yuko Wada
    The Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    Invest Ophthalmol Vis Sci 46:1735-41. 2005
    ....
  26. pmc Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6
    Thaddeus P Dryja
    Department of Ophthalmology, Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 102:4884-9. 2005
    ..black objects on a gray background. These patients exemplify a previously unrecognized, autosomal recessive form of congenital night blindness associated with a negative ERG waveform...
  27. ncbi request reprint A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo
    Dong Hyun Hong
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 46:435-41. 2005
    ..A further objective was to test whether the highly repetitive purine-rich region of ORF15 could be abbreviated without ablating the function, so as to accommodate RPGR replacement genes in adenoassociated virus (AAV) vectors...
  28. pmc RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa
    Dror Sharon
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Am J Hum Genet 73:1131-46. 2003
    ..Furthermore, as the length of the abnormal amino acid sequence following ORF15 frameshift mutations increased, the severity of disease increased...
  29. ncbi request reprint Further evaluation of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment: subgroup analyses
    Eliot L Berson
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, 243 Charles Street, Boston, MA 02114, USA
    Arch Ophthalmol 122:1306-14. 2004
    ..To determine whether docosahexaenoic acid will slow the course of retinal degeneration in subgroups of patients with retinitis pigmentosa who are receiving vitamin A...
  30. ncbi request reprint Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment
    Eliot L Berson
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, 243 Charles Street, Boston, MA 02114, USA
    Arch Ophthalmol 122:1297-305. 2004
    ..To determine whether a therapeutic dose of docosahexaenoic acid (DHA), an omega-3 fatty acid, will slow the course of retinal degeneration in adult patients with retinitis pigmentosa who are also receiving vitamin A...
  31. ncbi request reprint Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa
    Margaret M DeAngelis
    Massachusetts Eye and Ear Infirmary, 243 Charles St, Boston, MA 02114, USA
    Arch Ophthalmol 120:369-75. 2002
    ....
  32. ncbi request reprint Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram
    Sureka Thiagalingam
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Ophthalmic Genet 28:135-42. 2007
    ..To identify mutations in KCNV2 in patients with a form of cone dystrophy characterized by a supernormal rod electroretinogram (ERG)...
  33. ncbi request reprint Neurochemical, morphological, and neurophysiological abnormalities in retinas of Sandhoff and GM1 gangliosidosis mice
    Christine A Denny
    Biology Department, Boston College, Chestnut Hill, Massachusetts 02467, USA
    J Neurochem 101:1294-302. 2007
    ..Our findings present a model system for assessing retinal pathobiology and therapies for the gangliosidoses...
  34. ncbi request reprint Effects of low AIPL1 expression on phototransduction in rods
    Clint L Makino
    Howe Laboratory, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary and Harvard Medical School, Boston 02114, USA
    Invest Ophthalmol Vis Sci 47:2185-94. 2006
    ..To investigate the impact of aryl hydrocarbon receptor-interacting protein-like (AIPL)-1 on photoreception in rods...
  35. ncbi request reprint Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation
    Koji M Nishiguchi
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Nature 427:75-8. 2004
    ..To our knowledge, these patients represent the first identified humans with a phenotype associated with reduced RGS activity in any organ...
  36. ncbi request reprint Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP
    Basil S Pawlyk
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    Invest Ophthalmol Vis Sci 46:3039-45. 2005
    ..The current study was an investigation of whether somatic gene replacement could rescue degenerating photoreceptors in a murine model of LCA due to a defect in RPGRIP...
  37. pmc Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function
    Koji M Nishiguchi
    Ocular Molecular Genetics Institute and Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 101:17819-24. 2004
    ..Our report presents an unusual clinical phenotype in humans with loss-of-function mutations in NRL...

Research Grants2

  1. Reading Enhancement for Patients with Visual Field Loss
    MICHAEL SANDBERG; Fiscal Year: 2004
    ....
  2. Melanopsin-based form vision in photoreceptor disease
    MICHAEL SANDBERG; Fiscal Year: 2007
    ....