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Genetics February 2025

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

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Kari Branham; Lassana Samarakoon; Isabelle Audo; Allison R. Ayala; Janet K. Cheetham; Stephen P. Daiger; Patty Dhooge; Jacque L. Duncan; Todd A. Durham; Abigail T. Fahim; Rachel M. Huckfeldt; Robert B. Hufnagel; Susanne Kohl; Ramiro S. Maldonado; Michele Melia; Michel Michaelides; Mark E. Pennesi; José-Alain Sahel; Juliana M. Ferraz Sallum; Mandeep S. Singh; Dror Sharon; Kimberly Stepien; Kaylie Jones; Christina Y. Weng; for the Foundation Fighting Blindness Clinical Consortium Investigator Group
TAGS: blindness, genes, genetics, retinal diseases, social survey
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):12. https://doi.org/10.1167/iovs.66.2.12

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Decline of visual function and risk of legal blindness with age in patients with RPGR-associated retinal degeneration, a multicenter study

Bela Parekh; Joshua D Stein; Rehbi Abuzaitoun; Kari E Branham; Chris Andrews; Dejan Milentijevic; Divya Narayanan; Thiran Jayasundera

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3112.

ARVO Annual Meeting Abstract June 2024

Using artificial intelligence (AI) to identify and characterize RPGR patients in a large electronic health record (EHR) database

Thiran Jayasundera; Kari E. Branham; Dejan Milentijevic; Jinghua He; Alicia K. Campbell; Chris Andrews; Joshua D Stein

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3739.

ARVO Annual Meeting Abstract June 2024

The patient journey from early symptoms to initial diagnosis of RPGR -associated retinal disease: Can we shorten time to first diagnosis in a gene therapy era?

Kari E Branham; Chris Andrews; Joshua D Stein; Dejan Milentijevic; Divya Narayanan; Thiran Jayasundera

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3110.

ARVO Annual Meeting Abstract June 2024

Comparison of Central Field Stimulus Threshold with Full Field Stimulus Threshold

Naheed Khan; Mariam Khan; Yunshu Zhou; Abigail Fahim; Kari E. Branham; Dana Schlegel; Thiran Jayasundera; Cagri Besirli

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5391.

ARVO Annual Meeting Abstract June 2024

Clinical Features and Interocular Symmetry in a Cohort of Choroideremia Carriers

Sarah J Garnai; Kari E Branham; Abigail Fahim

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6043.

ARVO Annual Meeting Abstract June 2023

Leveraging the Sight Outcomes Research Collaborative (SOURCE) Repository to Identify Patients with RPGR-Related Retinitis Pigmentosa

Nnana Amakiri; Kari Branham; K. Thiran Jayasundera; Chris A. Andrews; Dejan Milentijevic; Divya Narayanan; Taylor Johnson; Jenna Jensen; Barbara M Wirostko; Joshua D Stein

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4664.

ARVO Annual Meeting Abstract June 2023

Molecular diagnostic yield for Black/African American participants in eyeGENE ®

Nia Moore; Melissa Reeves; Kerry E Goetz; Bin Guan; Ehsan Ullah; Kari Branham; K. Thiran Jayasundera; Santa J Tumminia; Robert B. Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3079.

ARVO Annual Meeting Abstract June 2023

Medical Comorbidities and Severe Visual Impairment in Real-World Patients With Inherited Retinal Diseases

Kari E Branham; K. Thiran Jayasundera; Dejan Milentijevic; Jinghua He; Alicia Campbell; Chris A. Andrews; Joshua D Stein

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5440.

ARVO Annual Meeting Abstract June 2022

Readability, Suitability, and Quality of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options

Stacy Partin; Eleanor Westfall; Gregory Sanda; Kelly Muir; Kari Branham; Nieraj Jain

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3383 – A0170.

ARVO Annual Meeting Abstract June 2022

A rare variant in ZBED1 , a gene from the pseudoautosomal region of the X and Y chromosomes, is a likely cause of dominant retinitis pigmentosa in several large families.

Lori S Sullivan; Elizabeth Cadena; Sara Bowne; Kinga Maria Bujakowska; Egle Galdikaite-Braziene; Emily Place; Eric A Pierce; Radha Ayyagari; Daniel Koboldt; David G Birch; Kaylie Jones; Kari Branham; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4120 – F0357.

Genetics June 2021

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

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Mariana Matioli da Palma; Austin D. Igelman; Cristy Ku; Amanda Burr; Jia Yue You; Emily M. Place; Nan-Kai Wang; Jin Kyun Oh; Kari E. Branham; Xinxin Zhang; Jeeyun Ahn; Michael B. Gorin; Byron L. Lam; Cecinio C. Ronquillo; Paul S. Bernstein; Aaron Nagiel; Rachel Huckfeldt; Michelle T. Cabrera; John P. Kelly; Benjamin Bakall; Alessandro Iannaccone; Robert B. Hufnagel; Wadih M. Zein; Robert K. Koenekoop; David G. Birch; Paul Yang; Abigail T. Fahim; Mark E. Pennesi
TAGS: arteriohepatic dysplasia, eye
Invest. Ophthalmol. Vis. Sci.. 2021; 62(7):27. https://doi.org/10.1167/iovs.62.7.27

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

The prevalence, visual significance, and genotype-phenotype associations of foveal hypoplasia in inherited retinal diseases

Rebhi Abuzaitoun; Kari Branham; Dana Schlegel; Thiran Jayasundera; Abigail T Fahim

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3232.

ARVO Annual Meeting Abstract June 2021

Factors Affecting Rates of Genetic Testing for Inherited Retinal Degenerations

Peter Yu Cheng Zhao; Kari E Branham; Dana Schlegel; Abigail T Fahim; Thiran Jayasundera

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):162.

ARVO Annual Meeting Abstract June 2020

RUSH2A: systematic cohort variant modeling reveals phenotypic correlates

Robert B. Hufnagel; Bin Guan; Ehsan Ullah; Wendi Liang; Carmen Brewer; Stephen P Daiger; Kari E Branham; Jacque L Duncan

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):836.

ARVO Annual Meeting Abstract June 2020

Adherence and Satisfaction in Argus II Prosthesis Users: A Self Determination Theory Model

Mariam Khan; Kari E Branham; Thiran Jayasundera; Naheed W Khan

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):928.

Review June 2020

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

PDF

Debra A. Thompson; Alessandro Iannaccone; Robin R. Ali; Vadim Y. Arshavsky; Isabelle Audo; James W. B. Bainbridge; Cagri G. Besirli; David G. Birch; Kari E. Branham; Artur V. Cideciyan; Steven P. Daiger; Deniz Dalkara; Jacque L. Duncan; Abigail T. Fahim; John G. Flannery; Roberto Gattegna; John R. Heckenlively; Elise Heon; K. Thiran Jayasundera; Naheed W. Khan; Henry Klassen; Bart P. Leroy; Robert S. Molday; David C. Musch; Mark E. Pennesi; Simon M. Petersen-Jones; Eric A. Pierce; Rajesh C. Rao; Thomas A. Reh; Jose A. Sahel; Dror Sharon; Paul A. Sieving; Enrica Strettoi; Paul Yang; David N. Zacks; The Monaciano Consortium
TAGS: outcome measures, retinal diseases, surrogate endpoints, genetics, vision, natural history, ethics, gene therapy
Trans. Vis. Sci. Tech.. 2020; 9(7):2. https://doi.org/10.1167/tvst.9.7.2

ARVO Annual Meeting Abstract July 2019

X-Chromosome Inactivation is a Biomarker of Clinical Severity in Female Carriers of X-linked Retinitis Pigmentosa

Abigail T Fahim; Lori S Sullivan; Sara J Bowne; Kaylie Webb-Jones; Dianna K.H. Wheaton; Kari E Branham; Mohammad Othman; Athanasios J Karoukis; Chris Andrews; John R Heckenlively; David G Birch; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2961.

ARVO Annual Meeting Abstract July 2018

Mutations in the novel gene IFT88 are involved in causing non-syndromic inherited retinal degeneration (IRD)

Anil Kumar Chekuri; Aditya Ayyagari Guru; Pooja Biswas; Kari Branham; Hiroko Matsui; Angel Soto Hermida; Michael Hicks; Akhila Alapati; Amalio Talenti; John Heckenlively; Kelly A. Frazer; Paul Sieving; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4466.

ARVO Annual Meeting Abstract July 2018

The journey from clinical to genetic diagnosis in Stargardt disease

Dana Schlegel; Kari E Branham; John R Heckenlively; Abigail T Fahim; Thiran Jayaundera

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1433.

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Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

Decline of visual function and risk of legal blindness with age in patients with RPGR-associated retinal degeneration, a multicenter study

Using artificial intelligence (AI) to identify and characterize RPGR patients in a large electronic health record (EHR) database

The patient journey from early symptoms to initial diagnosis of RPGR -associated retinal disease: Can we shorten time to first diagnosis in a gene therapy era?

Comparison of Central Field Stimulus Threshold with Full Field Stimulus Threshold

Clinical Features and Interocular Symmetry in a Cohort of Choroideremia Carriers

Leveraging the Sight Outcomes Research Collaborative (SOURCE) Repository to Identify Patients with RPGR-Related Retinitis Pigmentosa

Molecular diagnostic yield for Black/African American participants in eyeGENE ®

Medical Comorbidities and Severe Visual Impairment in Real-World Patients With Inherited Retinal Diseases

Readability, Suitability, and Quality of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options

A rare variant in ZBED1 , a gene from the pseudoautosomal region of the X and Y chromosomes, is a likely cause of dominant retinitis pigmentosa in several large families.

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

The prevalence, visual significance, and genotype-phenotype associations of foveal hypoplasia in inherited retinal diseases

Factors Affecting Rates of Genetic Testing for Inherited Retinal Degenerations

RUSH2A: systematic cohort variant modeling reveals phenotypic correlates

Adherence and Satisfaction in Argus II Prosthesis Users: A Self Determination Theory Model

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

X-Chromosome Inactivation is a Biomarker of Clinical Severity in Female Carriers of X-linked Retinitis Pigmentosa

Mutations in the novel gene IFT88 are involved in causing non-syndromic inherited retinal degeneration (IRD)

The journey from clinical to genetic diagnosis in Stargardt disease

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