Eliot L Berson

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. 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
  2. pmc ω-3 intake and visual acuity in patients with retinitis pigmentosa receiving vitamin A
    Eliot L Berson
    Arch Ophthalmol 130:707-11. 2012
  3. pmc Long-term visual prognoses in patients with retinitis pigmentosa: the Ludwig von Sallmann lecture
    Eliot L Berson
    Havard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    Exp Eye Res 85:7-14. 2007
  4. doi request reprint Retinal degenerations: planning for the future
    Eliot L Berson
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, Massachusetts 02114, USA
    Adv Exp Med Biol 613:21-35. 2008
  5. 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
  6. 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
  7. pmc Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A
    Eliot L Berson
    Berman Gund Laboratory for Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Arch Ophthalmol 128:403-11. 2010
  8. 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
  9. 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
  10. 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

Collaborators

Detail Information

Publications51

  1. 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)...
  2. pmc ω-3 intake and visual acuity in patients with retinitis pigmentosa receiving vitamin A
    Eliot L Berson
    Arch Ophthalmol 130:707-11. 2012
    ..To evaluate whether a diet high in long chain ω-3 fatty acids can slow the rate of visual acuity loss among patients with retinitis pigmentosa receiving vitamin A palmitate...
  3. pmc Long-term visual prognoses in patients with retinitis pigmentosa: the Ludwig von Sallmann lecture
    Eliot L Berson
    Havard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    Exp Eye Res 85:7-14. 2007
    ..Knowledge of the amount of remaining cone function in the ERG often reduces patient anxiety and helps patients plan for their future...
  4. doi request reprint Retinal degenerations: planning for the future
    Eliot L Berson
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, Massachusetts 02114, USA
    Adv Exp Med Biol 613:21-35. 2008
  5. 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...
  6. 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...
  7. pmc Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A
    Eliot L Berson
    Berman Gund Laboratory for Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Arch Ophthalmol 128:403-11. 2010
    ..To determine whether lutein supplementation will slow visual function decline in patients with retinitis pigmentosa receiving vitamin A...
  8. 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
    ....
  9. 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...
  10. 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...
  11. pmc A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa
    Anneke I den Hollander
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 50:1864-72. 2009
    ..This study was performed to determine whether mutations in the IRBP gene (RBP3) are associated with photoreceptor degeneration...
  12. 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
    ....
  13. 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...
  14. 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...
  15. pmc A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration
    Koji M Nishiguchi
    Ocular Molecular Genetics Institute, Massachusetts Eye and Ear Infirmary, Boston, MA, USA
    Invest Ophthalmol Vis Sci 45:3863-70. 2004
    ..To identify pathogenic mutations in the guanylate cyclase-activating protein 1 (GCAP1) and GCAP2 genes and to characterize the biochemical effect of mutation on guanylate cyclase (GC) stimulation...
  16. pmc Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation
    Dyonne T Hartong
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA
    Mol Vis 15:592-7. 2009
    ..We evaluated whether the length of telomeres in leukocytes correlated with the severity of RP in patients with the Pro23His rhodopsin mutation who have shown marked heterogeneity in disease severity...
  17. 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...
  18. 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."..
  19. 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
    ....
  20. ncbi request reprint Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa
    Babak Jian Seyedahmadi
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Exp Eye Res 79:167-73. 2004
    ..Our results indicate that USH2A mutations are found in about 7% of all cases of RP in North America, a frequency similar to the RPGR gene (8%) and the rhodopsin gene (10%)...
  21. pmc Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa
    Terri L McGee
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    J Med Genet 47:499-506. 2010
    ..The USH2A gene was initially identified as a transcript comprised of 21 exons but subsequently a longer isoform containing 72 exons was identified...
  22. ncbi request reprint Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene
    Michael Adamian
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Am J Ophthalmol 142:515-8. 2006
    ..We investigated whether opsin mislocalization occurs in photoreceptors in a female carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the retinitis pigmentosa GTPase regulator gene (RPGR)...
  23. ncbi request reprint Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations
    Carlo Rivolta
    Ocular Molecular Genetics Institute, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Hum Mutat 27:644-53. 2006
    ..The similar mRNA expression levels from genes with and without introns suggest that there is no generalized RNA splicing abnormality in RP11 patients...
  24. ncbi request reprint Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis
    Carlo Rivolta
    Ocular Molecular Genetics Institute and the Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Mol Vis 9:49-51. 2003
    ..To determine whether pathogenic mutations exist in the ELOVL4 gene in patients with inherited retinal degenerations other than Stargardt-like macular dystrophy or other hereditary macular degenerations...
  25. 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)...
  26. 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...
  27. pmc Disease course of patients with unilateral pigmentary retinopathy
    Emorfily Potsidis
    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 52:9244-9. 2011
    ..To evaluate the change in ocular function by eye in patients with unilateral pigmentary retinopathy...
  28. 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...
  29. ncbi request reprint Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases
    Carlo Rivolta
    Harvard Medical School, Massachusetts Eye and Ear Infirmary, Ocular Molecular Genetics Institute and the Berman Gund Laboratory for the Study of Retinal Degenerations, Boston, MA, USA
    Mol Vis 12:1511-5. 2006
    ..To investigate the peropsin gene (RRH), encoding a retinal pigment epithelium homolog of the rod-expressed opsin (rhodopsin), for the presence of pathogenic mutations causing retinitis pigmentosa (RP) or other retinal degenerations...
  30. ncbi request reprint A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa
    Geetha H Mylvaganam
    Ocular Molecular Genetics Institute and the Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Mol Vis 12:1496-8. 2006
    ..To search for mutations in the GNB1 gene (coding for the transducin beta1-subunit protein) in patients with autosomal dominant retinitis pigmentosa...
  31. pmc Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis
    Basil S Pawlyk
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, and Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Hum Gene Ther 21:993-1004. 2010
    ..Our results also have therapeutic implications for other forms of retinal degenerations attributable to a ciliary defect...
  32. 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...
  33. pmc Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa
    Meredith O Sweeney
    Ocular Molecular Genetics Institute and the Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Mol Vis 13:588-93. 2007
    ....
  34. pmc Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle
    Dyonne T Hartong
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, Massachusetts 02114, USA
    Nat Genet 40:1230-4. 2008
    ....
  35. ncbi request reprint Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys
    King To
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    Am J Ophthalmol 137:946-8. 2004
    ....
  36. 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...
  37. 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...
  38. ncbi request reprint Genotype-phenotype correlations in Bardet-Biedl syndrome
    Anthony B Daniels
    Berman Gund Laboratory for the Study of Retinal Degenerations, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA
    Arch Ophthalmol 130:901-7. 2012
    ..To determine whether mutations in different Bardet-Biedl syndrome (BBS) genes result in different ocular phenotypes...
  39. ncbi request reprint Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases
    Yael Ben-Arie-Weintrob
    The Cogan Eye Pathology Laboratory and the Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, U S A
    Ophthalmic Genet 26:91-100. 2005
    ..No histopathologic descriptions were found of the vast majority of genetically defined forms of retinal degeneration...
  40. ncbi request reprint Lymphoma-associated retinopathy
    King W To
    Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Ophthalmology 109:2149-53. 2002
    ..To describe the clinical, electrophysiologic, and serologic findings in a patient with retinal degeneration associated with Hodgkin's lymphoma...
  41. ncbi request reprint Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A
    Carlo Rivolta
    Massachusetts Eye and Ear Infirmary, 243 Charles St, Boston, MA 02114, USA
    Arch Ophthalmol 120:1566-71. 2002
    ..To evaluate a form of nonmendelian inheritance in a patient with retinitis pigmentosa (RP)...
  42. ncbi request reprint Retinitis pigmentosa
    Dyonne T Hartong
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    Lancet 368:1795-809. 2006
    ....
  43. ncbi request reprint Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied 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, MA 02114, USA
    Mol Vis 10:62-4. 2004
    ..To search for a phenotype associated with mutations in the phosducin gene PDC...
  44. 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...
  45. pmc Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology
    Laura C Horton
    Ataxia Unit, Cognitive and Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Suite 340, Charles River Plaza South, 175 Cambridge Street, Boston, MA 02114, USA
    Cerebellum 12:176-93. 2013
    ..Spinocerebellar ataxia type 7 evolves through four clinical stages; neuropathological findings underlie the clinical presentation; electroretinograms are a potential biomarker of disease progression...
  46. ncbi request reprint Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His
    King To
    Berman Gund Laboratory for the Study of Retinal Degenerations and the Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts 02114, USA
    Am J Ophthalmol 134:290-3. 2002
    ....
  47. 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
    ....
  48. ncbi request reprint Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases
    Dror Sharon
    Ocular Molecular Genetics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 43:1971-9. 2002
    ..To study the possible involvement of the rod (SLC24A1) and cone (SLC24A2) Na-Ca+K exchanger (NCKX) genes in retinal diseases...
  49. pmc Extended wearing trial of Trifield lens device for 'tunnel vision'
    Russell L Woods
    Schepens Eye Research Institute, Harvard Medical School, Boston, MA 02114 2500, USA
    Ophthalmic Physiol Opt 30:240-52. 2010
    ..Crowded environments were particularly difficult for most wearers. Possible reasons for long-term discontinuation and lack of adaptation to perceived direction are discussed...
  50. ncbi request reprint Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function
    Xuejiao Wang
    Department of Ophthalmology and Visual Sciences, Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Biol Chem 277:43288-300. 2002
    ..In view of the ubiquitous expression of Baf, we hypothesize that it may play a role in regulating tissue- or cell type-specific gene expression by interacting with homeodomain transcription factors...
  51. pmc Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay
    Thomas Rio Frio
    Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
    J Clin Invest 118:1519-31. 2008
    ..Furthermore, these data provide compelling evidence that the pathogenic effect of PRPF31 mutations is likely due to haploinsufficiency rather than to gain of function...