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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

Retina October 2024

Endpoints and Design for Clinical Trials in USH2A -Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study

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Maureen G. Maguire; David G. Birch; Jacque L. Duncan; Allison R. Ayala; Lauren N. Ayton; Janet K. Cheetham; Peiyao Cheng; Todd A. Durham; Frederick L. Ferris, III; Carel B. Hoyng; Rachel M. Huckfeldt; Glenn J. Jaffe; Christine Kay; Eleonora M. Lad; Bart P. Leroy; Wendi Liang; Lee S. McDaniel; Michele Melia; Michel Michaelides; Mark E. Pennesi; José-Alain Sahel; Lassana Samarakoon; on behalf of the REDI Working Group and the Foundation Fighting Blindness Clinical Consortium Investigator Group
TAGS: cohort studies, eye, natural history, outcome measures, retinal degeneration, sample size, surrogate endpoints, vision, united states food and drug administration, perimetry
Trans. Vis. Sci. Tech.. 2024; 13(10):15. https://doi.org/10.1167/tvst.13.10.15

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

A prospective multimodal imaging analysis and structure-function correlation in patients exposed to pentosan polysulfate

Darren Chen; Sandra Alhoyek; Francesco Romano; Eleni Konstantinou; Magdalena G. Krzystolik; Daniel Hu; Rachel M Huckfeldt; Demetrios G. Vavvas; Leo A Kim; Jason Lee; Elise De; John B Miller; Nimesh Arvind Patel

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5522.

ARVO Annual Meeting Abstract June 2024

Photoreceptor structure following gene therapy in CNGA3 -mediated Achromatopsia: adaptive optics imaging results from a Phase 1/2 dose escalation clinical trial for AGTC-402 (rAAV2tYF-PR1.7-hCNGA3)

Yu You Jiang; Peiluo Xu; Christine Nichols Kay; Robert Sisk; Rachel M Huckfeldt; Jason Comander; Byron L Lam; Ninel Z. Gregori; Audina Berrocal; Mark E Pennesi; Andreas K Lauer; Amy Christenson; Nadia K Waheed; Jessica Ijams Wolfing Morgan

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3289.

ARVO Annual Meeting Abstract June 2024

Investigating Elusive Genetic Causality in Inherited Retinal Degeneration Cases

Cherrell Price; Riccardo Sangermano; Emily Place; Kaitlin O'Connell; Rachel M Huckfeldt; Jason Comander; Eric A Pierce; Kinga Maria Bujakowska

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5290.

Retina June 2024

Self-Reported Functional Vision in USH2A -Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire

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Bela Parekh; Jacque L. Duncan; Lassana Samarakoon; Michele Melia; Maria Fernanda Abalem; Chris A. Andrews; Isabelle Audo; Allison R. Ayala; Chris Bradley; Janet K. Cheetham; Gislin Dagnelie; Todd A. Durham; Rachel M. Huckfeldt; Gabrielle D. Lacy; Brett Malbin; Michel Michaelides; David C. Musch; Nicholas Peck-Dimit; Katarina Stingl; Christina Y. Weng; Alex Z. Zmejkoski; K. Thiran Jayasundera; for the Foundation Fighting Blindness Clinical Consortium Investigator Group
TAGS: michigan, questionnaires, retinal degeneration, self-report, vision, vision tests
Invest. Ophthalmol. Vis. Sci.. 2024; 65(6):5. https://doi.org/10.1167/iovs.65.6.5

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Dual Molecular Diagnoses in Patients with Inherited Retinal Degenerations

Marta Stevanovic; Kaitlin O’Connell; Priya Gupta; John Simmons Borchert; Jason Comander; Emily Place; Rachel M Huckfeldt

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4635.

ARVO Annual Meeting Abstract June 2023

Development of a High Throughput Assay

Hilary Scott; Emily Place; Evelyn Harper; Kevin Valestil; Sudeep Mehrotra; Rachel M Huckfeldt; Jason Comander; Eric A Pierce; Kinga Maria Bujakowska

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4521.

ARVO Annual Meeting Abstract June 2023

Assessment of clinical features and extraretinal manifestations of PRPF8 -associated retinitis pigmentosa

Priya Gupta; Emily Place; Netra Bellur-Modur; Jason Comander; Eric A Pierce; Rachel M Huckfeldt

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5442.

ARVO Annual Meeting Abstract June 2023

Baseline perimetry in Pro-EYS and correlation with other measures of disease severity

Rachel M Huckfeldt

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4632.

ARVO Annual Meeting Abstract June 2023

Investigating genetic causality with a high throughput splicing assay

Kinga Maria Bujakowska; Hilary Scott; Emily Place; Evelyn Harper; Sudeep Mehrotra; Rachel M Huckfeldt; Jason Comander; Eric A Pierce

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):493.

ARVO Annual Meeting Abstract June 2023

Challenges of common variants for risk assessment and genetic counseling of inherited retinal diseases

Molly Marra; Emma Bedoukain; Kaitlin O’Connell; Emily Place; Michelle Alabek; Erin O'Neil; Tomas S Aleman; Drew Scoles; Jason Comander; Rachel M Huckfeldt; Boris Rosin; Jose Sahel; Lesley Everett; Paul Yang; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):400.

ARVO Annual Meeting Abstract June 2023

Expression of Peripherin 2 (PRPH2) in retinal pigment epithelial cells

Nikolaos Efstathiou; Victor Correa; Ryo Matoba; Toshio Narimatsu; Dimitrios Ntentakis; Henar Albertos-Arranz; Constantine Georgakopoulos; Rachel M Huckfeldt; Yuki Morizane; Demetrios Vavvas

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2995.

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

Findings on visual photosensitivity in two phase 1/2 clinical trials of subretinal gene therapy with AGTC-401 and AGTC-402 for CNGB3 and CNGA3 achromatopsia

Rachel M Huckfeldt; Jason Comander; Mark E Pennesi; Paul Yang; Andreas Lauer; Robert Sisk; Edward Averbukh; Eyal Banin; Ninel Z Gregori; Janet L Davis; Byron L Lam; Christine Nichols Kay; Jessica Ijams Wolfing Morgan; Joseph Carroll; Bright Senyo Ashimatey; Matthew Feinsod

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):450.

ARVO Annual Meeting Abstract June 2022

Visual acuity and full-field stimulus thresholds (FST) over 2 years in the RUSH2A study: annual rates of change from mixed effects modeling

Peiyao Cheng; David G Birch; Jacque L Duncan; Frederick L Ferris; Maureen G Maguire; Allison R. Ayala; Janet K Cheetham; Todd Durham; Abigail T Fahim; Rachel M Huckfeldt; Michel Michaelides; Mark E Pennesi; Jose Alain Sahel; Katarina Stingl; Ajoy Vincent; Christina Y Weng

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4480 – F0267.

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.

Articles May 2022

Restoration of Vision and Retinal Responses After Adeno-Associated Virus–Mediated Optogenetic Therapy in Blind Dogs

PDF

Sergei Nikonov; Puya Aravand; Arkady Lyubarsky; Roman Nikonov; Angela J. Luo; Zhangyong Wei; Albert M. Maguire; Nicholas T. Phelps; Ivan Shpylchak; Keirnan Willett; Tomas S. Aleman; Rachel M. Huckfeldt; Pavitra S. Ramachandran; Jean Bennett
TAGS: adeno-associated virus, dog, domestic, gene therapy, optogenetics, retina, retinal cone, vision, mice, animal model
Trans. Vis. Sci. Tech.. 2022; 11(5):24. https://doi.org/10.1167/tvst.11.5.24

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Visual field and Visual Acuity changes in the Natural History of Choroideremia

Emily Liu; Joshua Boyer; Rachel M. Huckfeldt; Elise Heon; Paul F Kenna; Isabelle Audo; Ruifang Sui; Elias I Traboulsi; Paul S Bernstein; Tim Stout; Kathy Reape; Daniel C Chung

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3506.

ARVO Annual Meeting Abstract June 2021

Antigen-specific memory CD4 + T cells are uveitogenic in chronic autoimmune uveitis

Yihe Chen; Nai-Wen Fan; Rachel M. Huckfeldt; Shudan Wang

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3454.

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

Endpoints and Design for Clinical Trials in USH2A -Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study

A prospective multimodal imaging analysis and structure-function correlation in patients exposed to pentosan polysulfate

Photoreceptor structure following gene therapy in CNGA3 -mediated Achromatopsia: adaptive optics imaging results from a Phase 1/2 dose escalation clinical trial for AGTC-402 (rAAV2tYF-PR1.7-hCNGA3)

Investigating Elusive Genetic Causality in Inherited Retinal Degeneration Cases

Self-Reported Functional Vision in USH2A -Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire

Dual Molecular Diagnoses in Patients with Inherited Retinal Degenerations

Development of a High Throughput Assay

Assessment of clinical features and extraretinal manifestations of PRPF8 -associated retinitis pigmentosa

Baseline perimetry in Pro-EYS and correlation with other measures of disease severity

Investigating genetic causality with a high throughput splicing assay

Challenges of common variants for risk assessment and genetic counseling of inherited retinal diseases

Expression of Peripherin 2 (PRPH2) in retinal pigment epithelial cells

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

Findings on visual photosensitivity in two phase 1/2 clinical trials of subretinal gene therapy with AGTC-401 and AGTC-402 for CNGB3 and CNGA3 achromatopsia

Visual acuity and full-field stimulus thresholds (FST) over 2 years in the RUSH2A study: annual rates of change from mixed effects modeling

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

Restoration of Vision and Retinal Responses After Adeno-Associated Virus–Mediated Optogenetic Therapy in Blind Dogs

Visual field and Visual Acuity changes in the Natural History of Choroideremia

Antigen-specific memory CD4 + T cells are uveitogenic in chronic autoimmune uveitis

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