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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

Perspective December 2024

Inherited Retinal Degenerations and Non-Neovascular Age-Related Macular Degeneration: Progress and Unmet Needs

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Jacque L. Duncan; Angela Bowman; Amy Laster; Claire Gelfman; David G. Birch; Shannon E. Boye; Stephen P. Daiger; Lucian del Priore; Donald J. Zack; James T. Handa; the Foundation Fighting Blindness Scientific Advisory Board
TAGS: age-related macular degeneration, genes, genetics, retinal degeneration, disease progression, gene therapy, vision, medical management, blindness
Trans. Vis. Sci. Tech.. 2024; 13(12):28. https://doi.org/10.1167/tvst.13.12.28

Perspective June 2023

Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel

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David G. Birch; Janet K. Cheetham; Stephen P. Daiger; Carel Hoyng; Christine Kay; Ian M. MacDonald; Mark E. Pennesi; Lori S. Sullivan
TAGS: gene therapy, mutation, natural history, phenotype, retinitis pigmentosa, x-linked inheritance, disease progression, blindness, retinal diseases, surrogate endpoints
Trans. Vis. Sci. Tech.. 2023; 12(6):5. https://doi.org/10.1167/tvst.12.6.5

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.

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 July 2019

Multiple copies of rhodopsin as a novel cause of autosomal dominant retinitis pigmentosa

Jacque L Duncan; Karmen Trzupek; Joan Fisher; Leilla Kenney; Sari Tuupanen; Miika Mehine; Stephen P Daiger; Brian Mansfield

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2943.

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.

Perspective July 2018

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

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Jacque L. Duncan; Eric A. Pierce; Amy M. Laster; Stephen P. Daiger; David G. Birch; John D. Ash; Alessandro Iannaccone; John G. Flannery; José A. Sahel; Donald J. Zack; Marco A. Zarbin; and the Foundation Fighting Blindness Scientific Advisory Board
TAGS: genes, genetics, retinal degeneration, comprehension, animal model, mutation
Trans. Vis. Sci. Tech.. 2018; 7(4):6. https://doi.org/10.1167/tvst.7.4.6

ARVO Annual Meeting Abstract July 2018

Genetic Testing Adds Research and Clinical Value to a Retinal Degeneration Registry

Kari E Branham; Joan Fisher; Karmen Trzupek; David G Birch; Jacque L Duncan; Stephen P Daiger; Brian C Mansfield

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4472.

ARVO Annual Meeting Abstract July 2018

A novel mutation in KIF3B in a family with dominant retinitis pigmentosa and polydactyly

Stephen P Daiger; Lori S Sullivan; Sara J Bowne; Elizabeth L Cadena; Kinga Maria Bujakowska; Eric A Pierce; Michael B Gorin; Xénia Latypova; Erica E Davis; Nicholas Katsanis; Ludovic Martin; Laurence Legeai-Mallet; Benjamin Cogne; Stéphane Bezieau; Thomas Besnard; Bertrand Isidor

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):47.

ARVO Annual Meeting Abstract July 2018

Molecular defects of the disease-causing human arrestin-1 C147F mutant

Sergey Vishnivetskiy; Lori S Sullivan; Sara J Bowne; Stephen P Daiger; Eugenia Gurevich; Vsevolod V Gurevich

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3062.

Biochemistry and Molecular Biology January 2018

Molecular Defects of the Disease-Causing Human Arrestin-1 C147F Mutant

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Sergey A. Vishnivetskiy; Lori S. Sullivan; Sara J. Bowne; Stephen P. Daiger; Eugenia V. Gurevich; Vsevolod V. Gurevich
TAGS: arrestin, proteins
Invest. Ophthalmol. Vis. Sci.. 2018; 59(1):13-20. https://doi.org/10.1167/iovs.17-22180

ARVO Annual Meeting Abstract June 2017

An ancestral mutation in SAG (S-antigen visual arrestin-1) is a common cause of autosomal dominant retinitis pigmentosa in Hispanics

Lori S Sullivan; Sara J Bowne; Kaylie Webb-Jones; John R Heckenlively; Daniel C. Koboldt; Yumei Li; Rui Chen; Vsevolod Gurevich; David G Birch; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2763.

ARVO Annual Meeting Abstract June 2017

EZ Width Reflects Disease Severity in adRP Patients with PRPF31 Gene Mutations

Kaylie Webb-Jones; Martin Klein; Sara J Bowne; Lori S Sullivan; Stephen P Daiger; David G Birch

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3216.

ARVO Annual Meeting Abstract June 2017

SAG (S-antigen visual arrestin-1) mutations cause autosomal dominant retinitis pigmentosa (adRP) without the Oguchi disease phenotype

David G Birch; Kaylie Webb-Jones; Martin Klein; Rui Chen; Lori S Sullivan; Sara J Bowne; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3234.

Biochemistry and Molecular Biology May 2017

A Novel Dominant Mutation in SAG , the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

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Lori S. Sullivan; Sara J. Bowne; Daniel C. Koboldt; Elizabeth L. Cadena; John R. Heckenlively; Kari E. Branham; Dianna H. Wheaton; Kaylie D. Jones; Richard S. Ruiz; Mark E. Pennesi; Paul Yang; David Davis-Boozer; Hope Northrup; Vsevold V. Gurevich; Rui Chen; Mingchu Xu; Yumei Li; David G. Birch; Stephen P. Daiger
TAGS: arrestin, family, genes, mutation, retinitis pigmentosa, hispanics or latinos
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2774-2784. https://doi.org/10.1167/iovs.16-21341

ARVO Annual Meeting Abstract September 2016

Retinal Targeted-Capture Next Generation Sequencing and CLIA Confirmation in Patients with a Range of Inherited Retinal Degeneration

Stephen P Daiger; Sara J Bowne; Lori S Sullivan; Kaylie D Webb-Jones; David G Birch; Cheryl Elizabeth Avery; Feng Wang; Rui Chen; Dianna K H Wheaton

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

ARVO Annual Meeting Abstract September 2016

A tandem duplication of PRDM13 in a family with North Carolina Macular Dystrophy (MCRD1)

Lori S Sullivan; Sara J Bowne; Daniel C. Koboldt; Robert S Fulton; Kirsten G Locke; Kaylie D Webb-Jones; Dianna K H Wheaton; Richard K Wilson; David G Birch; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3132.

ARVO Annual Meeting Abstract September 2016

Complex Multi-Allelic Inherited Retinal Dystrophy: Multiple Genes Contributing Independently and Concurrently in Extended Families

Dianna K H Wheaton; Kaylie D Webb-Jones; Sara J Bowne; Lori S Sullivan; Rui Chen; Stephen P Daiger; David G Birch

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3135.

Research Highlight September 2016

Mutations in Linkage Disequilibrium With Putative Disease-Causing Mutations

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Stephen P. Daiger

Invest. Ophthalmol. Vis. Sci.. 2016; 57(11):4814. https://doi.org/10.1167/iovs.16-20334

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

Inherited Retinal Degenerations and Non-Neovascular Age-Related Macular Degeneration: Progress and Unmet Needs

Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel

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.

RUSH2A: systematic cohort variant modeling reveals phenotypic correlates

Multiple copies of rhodopsin as a novel cause of autosomal dominant retinitis pigmentosa

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

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

Genetic Testing Adds Research and Clinical Value to a Retinal Degeneration Registry

A novel mutation in KIF3B in a family with dominant retinitis pigmentosa and polydactyly

Molecular defects of the disease-causing human arrestin-1 C147F mutant

Molecular Defects of the Disease-Causing Human Arrestin-1 C147F Mutant

An ancestral mutation in SAG (S-antigen visual arrestin-1) is a common cause of autosomal dominant retinitis pigmentosa in Hispanics

EZ Width Reflects Disease Severity in adRP Patients with PRPF31 Gene Mutations

SAG (S-antigen visual arrestin-1) mutations cause autosomal dominant retinitis pigmentosa (adRP) without the Oguchi disease phenotype

A Novel Dominant Mutation in SAG , the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

Retinal Targeted-Capture Next Generation Sequencing and CLIA Confirmation in Patients with a Range of Inherited Retinal Degeneration

A tandem duplication of PRDM13 in a family with North Carolina Macular Dystrophy (MCRD1)

Complex Multi-Allelic Inherited Retinal Dystrophy: Multiple Genes Contributing Independently and Concurrently in Extended Families

Mutations in Linkage Disequilibrium With Putative Disease-Causing Mutations

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