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ARVO Annual Meeting Abstract June 2024

Effect of long-term glaucoma on AAV retinal transduction

Shan Fan; Chuanxi Xiang; Terri L McGee; Chad E Bigelow; Ganesh Prasanna; Noel D Johnson; Vikas Gulati; Lisa Reid; Carol B Toris

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):685.

ARVO Annual Meeting Abstract April 2014

Recombinant adeno-associated viral vector (rAAV)-mediated expression of RLBP1 (CRALBP) rescues the dark adaptation defect in a mouse model of RLBP1-associated retinal degeneration

Vivian W Choi; Chad E Bigelow; Terri L McGee; Akshata N Gujar; Hui Li; Shawn Hanks; Joanna Vrouvlianis; Thaddeus P Dryja; Bruce D Jaffee; Seshidhar Reddy Police

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):835.

ARVO Annual Meeting Abstract April 2010

Genotype-Phenotype Correlations in the Bardet-Biedl Syndrome

A. B. Daniels; J. Chen; T. L. McGee; C. Wiegel-DiFranco; M. A. Sandberg; J. F. Hejtmancik; E. L. Berson

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):1382.

ARVO Annual Meeting Abstract April 2010

Histologic Study of Autopsy Eyes From a Male With X-Linked Stationary Night Blindness With Myopia and a Novel Mutation in the NYX Gene, Leu202Pro

M. Adamian; T. L. McGee; E. L. Berson

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):4062.

ARVO Annual Meeting Abstract April 2009

A Single-Base Substitution Within an Intronic Repetitive Element in PRPF31 Causes Dominant Retinitis Pigmentosa With Reduced Penetrance

C. Rivolta; T. L. McGee; N. M. Wade; C. Iseli; J. S. Beckmann; E. L. Berson; T. Rio Frio

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):2318.

Retina April 2009

A Homozygous Missense Mutation in the IRBP Gene ( RBP3 ) Associated with Autosomal Recessive Retinitis Pigmentosa

PDF

Anneke I. den Hollander; Terri L. McGee; Carmela Ziviello; Sandro Banfi; Thaddeus P. Dryja; Federico Gonzalez-Fernandez; Debashis Ghosh; Eliot L. Berson
TAGS: autosomal recessive inheritance, e2f1 gene, family, genes, homozygote, missense mutation, retinitis pigmentosa, dietary sodium chloride, salts, sodium chloride
Invest. Ophthalmol. Vis. Sci.. 2009; 50(4):1864-1872. https://doi.org/10.1167/iovs.08-2497

Retina December 2008

Disease Course in Patients with Autosomal Recessive Retinitis Pigmentosa due to the USH2A Gene

PDF

Michael A. Sandberg; Bernard Rosner; Carol Weigel-DiFranco; Terri L. McGee; Thaddeus P. Dryja; Eliot L. Berson
TAGS: autosomal recessive inheritance, disease progression, genes, mutation, retinitis pigmentosa, visual fields, visual acuity, blindness, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2008; 49(12):5532-5539. https://doi.org/10.1167/iovs.08-2009

ARVO Annual Meeting Abstract May 2008

Identification of a Homozygous Missense Change in IRBP in a Consanguineous Family With Autosomal Recessive Retinitis Pigmentosa

A. I. Den Hollander; T. L. McGee; E. L. Berson

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):1693.

ARVO Annual Meeting Abstract May 2008

Identification of Genetic Defects Causing Recessive Retinal Degeneration Aided by Homozygosity Mapping in Consanguineous Families

T. L. McGee; A. I. Den Hollander; S. Mukai; E. L. Berson

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):1694.

ARVO Annual Meeting Abstract May 2008

Disease Course of Patients With Autosomal Recessive Retinitis Pigmentosa Due to USH2A Gene Mutations

M. A. Sandberg; B. Rosner; C. Weigel-DiFranco; T. L. McGee; T. P. Dryja; E. L. Berson

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):2175.

ARVO Annual Meeting Abstract May 2008

A Defect in the Krebs Cycle in Retinitis Pigmentosa

D. T. Hartong; M. Dange; T. L. McGee; E. L. Berson; R. F. Colman; T. P. Dryja

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):3284.

ARVO Annual Meeting Abstract May 2007

Mutations in the KCNV2 Gene in Patients With Cone Dystrophy and a Supernormal Rod Electroretinogram

S. Thiagalingam; T. L. McGee; R. G. Weleber; M. A. Sandberg; K. M. Trzupek; M. O. Sweeney; E. L. Berson; T. P. Dryja

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):1657.

ARVO Annual Meeting Abstract May 2007

Mutation Spectrum of the CHM Gene in Patients With Choroideremia

N. Smaoui; T. L. McGee; N. Nwokekeh; C. Weigel-DiFranco; B. Rosner; J. F. Hejtmancik; E. L. Berson

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):3734.

Retina May 2005

Screen of the IMPDH1 Gene among Patients with Dominant Retinitis Pigmentosa and Clinical Features Associated with the Most Common Mutation, Asp226Asn

PDF

Yuko Wada; Michael A. Sandberg; Terri L. McGee; Melissa A. Stillberger; Eliot L. Berson; Thaddeus P. Dryja
TAGS: genes, mutation, retinitis pigmentosa, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2005; 46(5):1735-1741. https://doi.org/10.1167/iovs.04-1197

Retina June 2002

Mutated Alleles of the Rod and Cone Na-Ca+K-Exchanger Genes in Patients with Retinal Diseases

PDF

Dror Sharon; Hiroyuki Yamamoto; Terri L. McGee; Vivian Rabe; Robert T. Szerencsei; Robert J. Winkfein; Clemens F. M. Prinsen; Claire S. Barnes; Sten Andreasson; Gerald A. Fishman; Paul P. M. Schnetkamp; Eliot L. Berson; Thaddeus P. Dryja
TAGS: alleles, genes, mutation, proteins, retinal cone, retinal diseases, rod photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2002; 43(6):1971-1979.

Biochemistry and Molecular Biology September 2001

Clinical Features and Mutations in Patients with Dominant Retinitis Pigmentosa-1 ( RP1 )

PDF

Eliot L. Berson; Jonna L. Grimsby; Scott M. Adams; Terri L. McGee; Elizabeth Sweklo; Eric A. Pierce; Michael A. Sandberg; Thaddeus P. Dryja
TAGS: mutation, retinitis
Invest. Ophthalmol. Vis. Sci.. 2001; 42(10):2217-2224.

Retina September 2000

Novel Rhodopsin Mutations Gly114Val and Gln184Pro in Dominant Retinitis Pigmentosa

PDF

Thaddeus P. Dryja; Jennifer A. McEvoy; Terri L. McGee; Eliot L. Berson
TAGS: mutation, retinitis pigmentosa, rhodopsin
Invest. Ophthalmol. Vis. Sci.. 2000; 41(10):3124-3127.

Retina August 2000

X-Linked Retinitis Pigmentosa: Mutation Spectrum of the RPGR and RP2 Genes and Correlation with Visual Function

PDF

Dror Sharon; Gail A. P. Bruns; Terri L. McGee; Michael A. Sandberg; Eliot L. Berson; Thaddeus P. Dryja
TAGS: genes, mutation, retinitis pigmentosa, vision, x-linked inheritance, polymorphism
Invest. Ophthalmol. Vis. Sci.. 2000; 41(9):2712-2721.

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Effect of long-term glaucoma on AAV retinal transduction

Recombinant adeno-associated viral vector (rAAV)-mediated expression of RLBP1 (CRALBP) rescues the dark adaptation defect in a mouse model of RLBP1-associated retinal degeneration

Genotype-Phenotype Correlations in the Bardet-Biedl Syndrome

Histologic Study of Autopsy Eyes From a Male With X-Linked Stationary Night Blindness With Myopia and a Novel Mutation in the NYX Gene, Leu202Pro

A Single-Base Substitution Within an Intronic Repetitive Element in PRPF31 Causes Dominant Retinitis Pigmentosa With Reduced Penetrance

A Homozygous Missense Mutation in the IRBP Gene ( RBP3 ) Associated with Autosomal Recessive Retinitis Pigmentosa

Disease Course in Patients with Autosomal Recessive Retinitis Pigmentosa due to the USH2A Gene

Identification of a Homozygous Missense Change in IRBP in a Consanguineous Family With Autosomal Recessive Retinitis Pigmentosa

Identification of Genetic Defects Causing Recessive Retinal Degeneration Aided by Homozygosity Mapping in Consanguineous Families

Disease Course of Patients With Autosomal Recessive Retinitis Pigmentosa Due to USH2A Gene Mutations

A Defect in the Krebs Cycle in Retinitis Pigmentosa

Mutations in the KCNV2 Gene in Patients With Cone Dystrophy and a Supernormal Rod Electroretinogram

Mutation Spectrum of the CHM Gene in Patients With Choroideremia

Screen of the IMPDH1 Gene among Patients with Dominant Retinitis Pigmentosa and Clinical Features Associated with the Most Common Mutation, Asp226Asn

Mutated Alleles of the Rod and Cone Na-Ca+K-Exchanger Genes in Patients with Retinal Diseases

Clinical Features and Mutations in Patients with Dominant Retinitis Pigmentosa-1 ( RP1 )

Novel Rhodopsin Mutations Gly114Val and Gln184Pro in Dominant Retinitis Pigmentosa

X-Linked Retinitis Pigmentosa: Mutation Spectrum of the RPGR and RP2 Genes and Correlation with Visual Function

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