Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseasesKoji 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...
- 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...
- 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...
- 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."..
- 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...
- 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...
- 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...
- 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...
- 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
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- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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
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- 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...
- 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...
- 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
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- 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
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- 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
..Both groups of mice had, on average, comparable subnormal ERG amplitudes. CONCLUSIONS: D-cis-Diltiazem had no detectable effect on preservation of photoreceptor structure and function in rd mice...
- 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...
- 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
..3% for visual field area, and -3.4% and -6.7% for 0.5 Hz and 30 Hz electroretinogram amplitudes, respectively. CONCLUSION: Patients with PPRCA have a slowly progressive disease with respect to the loss of peripheral vision...
- 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
..Average rates of decline of visual field area and ERG amplitude are fastest in patients with mutations affecting the C-terminal region...
- 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...
- 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...
- 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...
- 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
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- 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
..Among patients on vitamin A for at least 2 years, a diet rich in omega-3 fatty acids (> or =0.20 g/d) slowed the decline in visual field sensitivity...
- 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...
- 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...
- 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...
- 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)...
- 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...
- 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...
- 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...
