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ARVO Annual Meeting Abstract June 2023

Vitamin A for retinal degeneration revisited: the effects of genetic cause of disease, vitamin A/E supplementation and an electroretinogram biomarker on the rate of progression of rod-cone disease

Carol Weigel DiFranco; Jason Comander; Kit Green Sanderson; Emily Place; Matthew Maher; Erin Zampaglione; Yan Zhao; Rachel M Huckfeldt; Kinga Maria Bujakowska; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4446.

ARVO Annual Meeting Abstract June 2022

The Genetic Basis of Rod-Cone versus Cone-Rod Dystrophies

Jason Comander; Sarah Chorfi; Emily Place; Carol Weigel Difranco; Rachel M Huckfeldt

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4492 – F0279.

ARVO Annual Meeting Abstract June 2020

Relationship between Vision-related Activity Limitations and Binocular Visual Field Patterns in Retinitis Pigmentosa

Russell L Woods; Stephanie Reeves; Francisco Costela; Michael Sandberg; Carol Weigel-DiFranco; Tobias Elze

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1936.

ARVO Annual Meeting Abstract June 2020

Patterns of Visual Field Loss in Retinitis Pigmentosa found using Unsupervised Machine Learning of Goldmann Perimetry

Stephanie Reeves; Tobias Elze; Michael Sandberg; Carol Weigel-DiFranco; Russell L Woods

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4322.

ARVO Annual Meeting Abstract July 2019

Early post-approval results of gene therapy for RPE65-mediated retinal dystrophy with Luxturna (voretigene neparvovec) at Massachusetts Eye and Ear

Noam Rudnick; David Terrell; Carol Weigel-DiFranco; Jason Comander

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3397.

ARVO Annual Meeting Abstract July 2019

Binocular Visual Field Patterns in Retinitis Pigmentosa

Russell L Woods; Francisco Costela; Michael A Sandberg; Carol Weigel-DiFranco; Tobias Elze

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1821.

ARVO Annual Meeting Abstract July 2019

Subfoveal gene augmentation therapy for choroideremia: One-year results from a Phase I/II trial of AAV2-hCHM

Rachel M Huckfeldt; Tomas S Aleman; Tu Doan; Xiao-Hong Wen; Carol Weigel-DiFranco; Daniel C Chung; Emily Liu; Eric A Pierce; Jean Bennett; Albert M. Maguire; Dean Eliott; Jason Comander

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6401.

ARVO Annual Meeting Abstract July 2018

Vision-related Activity Limitations of a Large Sample of People with Retinitis Pigmentosa

Francisco Costela; Konrad Pesudovs; Michael Sandberg; Carol Weigel-DiFranco; Russell L Woods

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5179.

ARVO Annual Meeting Abstract July 2018

Visual Field Patterns in a Large Sample of People with Retinitis Pigmentosa

Russell L Woods; Michael Sandberg; Carol Weigel-DiFranco; Tobias Elze

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1947.

ARVO Annual Meeting Abstract September 2016

A Biomarker for Disease Course in Patients with Autosomal Dominant Retinitis Pigmentosa due to RHO Mutations

Safa Rahmani; Jason Comander; Carol Weigel DiFranco; Bernard Rosner; Michael A Sandberg

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):134.

Biochemistry and Molecular Biology December 2014

Targeted Exon Sequencing in Usher Syndrome Type I

PDF

Kinga M. Bujakowska; Mark Consugar; Emily Place; Shyana Harper; Jaclyn Lena; Daniel G. Taub; Joseph White; Daniel Navarro-Gomez; Carol Weigel DiFranco; Michael H. Farkas; Xiaowu Gai; Eliot L. Berson; Eric A. Pierce
TAGS: exons, genes, mutation, usher syndrome, cohort studies, massively-parallel genome sequencing
Invest. Ophthalmol. Vis. Sci.. 2014; 55(12):8488-8496. https://doi.org/10.1167/iovs.14-15169

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Long-term Vision Changes in Carriers of X-linked Retinitis Pigmentosa

Jason Comander; Carol Weigel-DiFranco; Eliot L Berson

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1393.

ARVO Annual Meeting Abstract April 2014

The Relationship of Cystoid Macular Edema to Urinary Iodine Concentration in Retinitis Pigmentosa

Michael A. Sandberg; Elizabeth N Pearce; Shyana Harper; Carol Weigel-DiFranco; Lois Hart; Bernard Rosner; Eliot L Berson

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1404.

ARVO Annual Meeting Abstract June 2013

Genetic Heterogeneity Among Patients with Pericentral Retinitis Pigmentosa

Jason Comander; Aliete Langsdorf; Shyana Harper; Carol Weigel-DiFranco; Mark Consugar; Michael Sandberg; Xiaowu Gai; Joseph White; Eliot Berson; Eric Pierce

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1579.

ARVO Annual Meeting Abstract June 2013

Comprehensive genetic analysis of an Usher I patient cohort

Kinga Bujakowska; Emily Place; Mark Consugar; Daniel Taub; Aliete Langsdorf; Carol Weigel-DiFranco; Shyana Harper; Xiaowu Gai; Eliot Berson; Eric Pierce

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1581.

ARVO Annual Meeting Abstract March 2012

FAM161A Mutations In Patients With Early-onset Retinitis Pigmentosa In The United States

Adriana Ransijn; Giulia Venturini; Silvio Alessandro Di Gioia; Shyana Harper; Carol Weigel-DiFranco; Carlo Rivolta; Eliot L. Berson

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4545.

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

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 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 March 2007

Disease Course of Patients with X-linked Retinitis Pigmentosa due to RPGR Gene Mutations

PDF

Michael A. Sandberg; Bernard Rosner; Carol Weigel-DiFranco; Thaddeus P. Dryja; Eliot L. Berson
TAGS: disease progression, mutation, retinitis pigmentosa, visual acuity, x-linked inheritance, visual fields, blindness
Invest. Ophthalmol. Vis. Sci.. 2007; 48(3):1298-1304. https://doi.org/10.1167/iovs.06-0971

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Vitamin A for retinal degeneration revisited: the effects of genetic cause of disease, vitamin A/E supplementation and an electroretinogram biomarker on the rate of progression of rod-cone disease

The Genetic Basis of Rod-Cone versus Cone-Rod Dystrophies

Relationship between Vision-related Activity Limitations and Binocular Visual Field Patterns in Retinitis Pigmentosa

Patterns of Visual Field Loss in Retinitis Pigmentosa found using Unsupervised Machine Learning of Goldmann Perimetry

Early post-approval results of gene therapy for RPE65-mediated retinal dystrophy with Luxturna (voretigene neparvovec) at Massachusetts Eye and Ear

Binocular Visual Field Patterns in Retinitis Pigmentosa

Subfoveal gene augmentation therapy for choroideremia: One-year results from a Phase I/II trial of AAV2-hCHM

Vision-related Activity Limitations of a Large Sample of People with Retinitis Pigmentosa

Visual Field Patterns in a Large Sample of People with Retinitis Pigmentosa

A Biomarker for Disease Course in Patients with Autosomal Dominant Retinitis Pigmentosa due to RHO Mutations

Targeted Exon Sequencing in Usher Syndrome Type I

Long-term Vision Changes in Carriers of X-linked Retinitis Pigmentosa

The Relationship of Cystoid Macular Edema to Urinary Iodine Concentration in Retinitis Pigmentosa

Genetic Heterogeneity Among Patients with Pericentral Retinitis Pigmentosa

Comprehensive genetic analysis of an Usher I patient cohort

FAM161A Mutations In Patients With Early-onset Retinitis Pigmentosa In The United States

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

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

Mutation Spectrum of the CHM Gene in Patients With Choroideremia

Disease Course of Patients with X-linked Retinitis Pigmentosa due to RPGR Gene Mutations

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