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Genetics May 2025

Systematic Ocular Phenotyping of Knockout Mouse Lines Identifies Genes Associated With Age-Related Corneal Dystrophies

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Andrew Briere; Peter Vo; Benjamin Yang; David Adams; Takanori Amano; Oana Amarie; Zorana Berberovic; Lynette Bower; Steve D. M. Brown; Samantha Burrill; Soo Young Cho; Sharon Clementson-Mobbs; Abigail D'souza; Mohammad Eskandarian; Ann M. Flenniken; Helmut Fuchs; Valerie Gailus-Durner; Yann Hérault; Martin Hrabe de Angelis; Shundan Jin; Russell Joynson; Yeon Kyung Kang; Haerim Kim; Hiroshi Masuya; Hamid Meziane; Ki-Hoan Nam; Hyuna Noh; Lauryl M. J. Nutter; Marcela Palkova; Jan Prochazka; Miles Joseph Raishbrook; Fabrice Riet; Jason Salazar; Radislav Sedlacek; Mohammed Selloum; Kyoung Yul Seo; Je Kyung Seong; Hae-Sol Shin; Toshihiko Shiroishi; Michelle Stewart; Karen Svenson; Masaru Tamura; Heather Tolentino; Sara Wells; Wolfgang Wurst; Atsushi Yoshiki; Louise Lanoue; K. C. Kent Lloyd; Brian C. Leonard; Michel J. Roux; Colin McKerlie; Ala Moshiri; for The International Mouse Phenotyping Consortium
TAGS: genes, hereditary corneal dystrophy, mice, knockout, phenotype determination, proteins, cornea
Invest. Ophthalmol. Vis. Sci.. 2025; 66(5):7. https://doi.org/10.1167/iovs.66.5.7

Includes: Supplemental Content

Optica Fall Vision Meeting Abstract April 2025

Invited Session II: Visual Prosthetics: The Neuralink Implant as a visual prosthesis

Dan Adams
TAGS: implants, visual prosthesis
Journal of Vision. 2025; 25(5):11. https://doi.org/10.1167/jov.25.5.11

ARVO Annual Meeting Abstract June 2024

Measurement of force changes along visual pathway in a biofidelic instrumented headform (BIH) during exposure to blasts

Sariah Elanna D'Empaire-Salomon; Janette Meyer; Eric Spivey; Katherine Rodak; Amy Stahl; Garrett Thorne; Douglas Adams; Tonia S Rex

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):92.

Genetics August 2022

Consequences of a Rare Complement Factor H Variant for Age-Related Macular Degeneration in the Amish

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Andrea R. Waksmunski; Kristy Miskimen; Yeunjoo E. Song; Michelle Grunin; Renee Laux; Denise Fuzzell; Sarada Fuzzell; Larry D. Adams; Laura Caywood; Michael Prough; Dwight Stambolian; William K. Scott; Margaret A. Pericak-Vance; Jonathan L. Haines
TAGS: age-related macular degeneration, alleles, complement factor h, proteins, c-reactive protein, rna
Invest. Ophthalmol. Vis. Sci.. 2022; 63(9):8. https://doi.org/10.1167/iovs.63.9.8

Includes: Supplemental Content

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology January 2021

Bilateral Occlusion Reduces the Ocular Deviation in Intermittent Exotropia

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John R. Economides; Daniel L. Adams; Jonathan C. Horton

Invest. Ophthalmol. Vis. Sci.. 2021; 62(1):6. https://doi.org/10.1167/iovs.62.1.6

Includes: Multimedia, Supplemental Content

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology June 2020

Vertical Optokinetic Stimulation Induces Diagonal Eye Movements in Patients with Idiopathic Infantile Nystagmus

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John R. Economides; Young-Woo Suh; Joshua B. Simmons; Daniel L. Adams; Jonathan C. Horton
TAGS: congenital nystagmus without sensory abnormality, eye movement, pathologic nystagmus, strabismus
Invest. Ophthalmol. Vis. Sci.. 2020; 61(6):14. https://doi.org/10.1167/iovs.61.6.14

ARVO Annual Meeting Abstract July 2019

Three loci associated with risk of advanced age-related macular degeneration (AMD) also influence anti-VEGF treatment response

William K Scott; Omar García Rodríguez; Patrice Whitehead-Gay; Larry D. Adams; Jacob K. Welch; Renee Laux; Milam A Brantley; Jaclyn L. Kovach; Stephen G Schwartz; Anita Agarwal; Jonathan L Haines; Margaret A Pericak-Vance

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2968.

Genetics October 2018

Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3

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Ighovie F. Onojafe; Lucyanne H. Megan; Madeline G. Melch; Joseph O. Aderemi; Ramakrishna P. Alur; Mones S. Abu-Asab; Chi-Chao Chan; Isa M. Bernardini; Jessica S. Albert; Tiziana Cogliati; David R. Adams; Brian P. Brooks
TAGS: albinism, oculocutaneous, albinism, oculocutaneous, type iii, mice, nitisinone, tyrosine, mice, inbred c57bl
Invest. Ophthalmol. Vis. Sci.. 2018; 59(12):4945-4952. https://doi.org/10.1167/iovs.16-20293

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Investigation of a rare risk variant in complement factor H for age-related macular degeneration in the Amish

Andrea R. Waksmunski; Kristy Miskimen; Yeunjoo E. Song; Renee Laux; Denise Fuzzell; Sarada Fuzzell; Larry D. Adams; Laura Caywood; Michael Prough; William K Scott; Dwight Stambolian; Margaret A Pericak-Vance; Jonathan L Haines

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1420.

ARVO Annual Meeting Abstract July 2018

Common Variants in KLHL2 and C4orf50 Are Associated with Poorer Anti-VEGF Treatment Response in Age-Related Macular Degeneration

Omar García Rodríguez; Samuel Shuoyuan Pan; Patrice Patrice; Larry D. Adams; Jacob Welch; Renee Laux; Jorge Fortun; Milam A Brantley; Jaclyn Kovach,; Stephen G Schwartz; Anita Agarwal; Jonathan Haines; Margaret A Pericak-Vance; William Scott

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1425.

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology October 2017

Incomitance and Eye Dominance in Intermittent Exotropia

PDF

Daniel L. Adams; John R. Economides; Jonathan C. Horton
TAGS: exotropia, eye, intermittent exotropia, ocular dominance
Invest. Ophthalmol. Vis. Sci.. 2017; 58(10):4049-4055. https://doi.org/10.1167/iovs.17-22155

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Choroidal and retinal angiopathy in V30M hereditary transthyretin amyloidosis

Antoine Rousseau; Céline Terrada; Sara Touhami; Emmanuel Barreau; Pierre-Raphael Rothschild; Sophie Valleix; Marie-Hélène Errera; Cécile Cauquil; Anne Guiochon-Mantel; David Adams; Marc Labetoulle

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1556.

ARVO Annual Meeting Abstract June 2017

The Amish Eye Study: Baseline Quantitative Ocular Characteristics on a Unique Cohort

Jonathan L Haines; Nicole Restrepo; Yeunjoo Song; Renee Laux; Larry Deon Adams; Denise Fuzzell; Laura J Caywood; Violet Horst; Tine MacKay; Debbie Dana; Muneeswar Gupta Nittala; Srinivas R Sadda; William K Scott; Dwight Stambolian; Margaret A Pericak-Vance

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):188.

ARVO Annual Meeting Abstract June 2017

Contribution of AMD risk variants to the genetic architecture of choroidal thickness in the Amish

Nicole Restrepo; Yeunjoo Song; Renee Laux; Larry Deon Adams; Denise Fuzzell; Laura J Caywood; Violet Horst; Tine MacKay; Debbie Dana; Muneeswar Gupta Nittala; Srinivas R Sadda; William K Scott; Dwight Stambolian; Margaret A Pericak-Vance; Jonathan L Haines

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1835.

ARVO Annual Meeting Abstract June 2017

Genetic Variation in RRAGC Affects Progression Rate from Intermediate to Advanced Age-Related Macular Degeneration

William K Scott; Patrice Persad; Rebecca J Sardell; Samuel S Pan; Patrice Whitehead Gay; Larry Deon Adams; Renee Laux; Jorge Fortun; Milam A Brantley; Jaclyn L Kovach; Stephen G Schwartz; Anita Agarwal; Jonathan L Haines; Margaret A Pericak-Vance

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3424.

Genetics November 2016

Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH Locus

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Rebecca J. Sardell; Patrice J. Persad; Samuel S. Pan; Patrice Whitehead; Larry D. Adams; Reneé A. Laux; Jorge A. Fortun; Milam A. Brantley, Jr; Jaclyn L. Kovach; Stephen G. Schwartz; Anita Agarwal; Jonathan L. Haines; William K. Scott; Margaret A. Pericak-Vance
TAGS: age-related macular degeneration, alleles, genetic risk, choroidal neovascularization, genotype, single nucleotide polymorphism, eye
Invest. Ophthalmol. Vis. Sci.. 2016; 57(14):6107-6115. https://doi.org/10.1167/iovs.16-19519

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

The heritability of choroidal thickness in the Amish

Margaret A Pericak-Vance; Rebecca J Sardell; Muneeswar gupta Nittala; Larry Deon Adams; Renee Laux; Debra Dana; William K Scott; Srinivas R Sadda; Dwight Stambolian; Jonathan L Haines

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2644.

Vision Sciences Society Annual Meeting Abstract September 2016

An Underadditivity of the Cellular Mechanisms Responsible for the Orientation Contrast Effects of the Rod-and-Frame Illusion

David Adams; Scott Reed; Paul Dassonville

Journal of Vision. 2016; 16(12):800. https://doi.org/10.1167/16.12.800

ARVO Annual Meeting Abstract June 2015

Identifying endophenotypes associated with age-related macular degeneration in the Amish using OCT

Rebecca Sardell; William Scott; Larry Deon Adams; Jessica Cooke Bailey; Muneeswar Gupta Nittala; Srinivas R Sadda; Dwight Stambolian; Jonathan Haines; Margaret A Pericak-Vance

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):793.

Genetics July 2014

Rare Complement Factor H Variant Associated With Age-Related Macular Degeneration in the Amish

PDF

Joshua D. Hoffman; Jessica N. CookeBailey; Laura D'Aoust; William Cade; Juan Ayala-Haedo; Denise Fuzzell; Renee Laux; Larry D. Adams; Lori Reinhart-Mercer; Laura Caywood; Patrice Whitehead-Gay; Anita Agarwal; Gaofeng Wang; William K. Scott; Margaret A. Pericak-Vance; Jonathan L. Haines
TAGS: age-related macular degeneration, complement factor h, self-report, whole exome sequencing, genetic linkage analysis, genetic risk, genotype determination
Invest. Ophthalmol. Vis. Sci.. 2014; 55(7):4455-4460. https://doi.org/10.1167/iovs.13-13684

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Systematic Ocular Phenotyping of Knockout Mouse Lines Identifies Genes Associated With Age-Related Corneal Dystrophies

Invited Session II: Visual Prosthetics: The Neuralink Implant as a visual prosthesis

Measurement of force changes along visual pathway in a biofidelic instrumented headform (BIH) during exposure to blasts

Consequences of a Rare Complement Factor H Variant for Age-Related Macular Degeneration in the Amish

Bilateral Occlusion Reduces the Ocular Deviation in Intermittent Exotropia

Vertical Optokinetic Stimulation Induces Diagonal Eye Movements in Patients with Idiopathic Infantile Nystagmus

Three loci associated with risk of advanced age-related macular degeneration (AMD) also influence anti-VEGF treatment response

Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3

Investigation of a rare risk variant in complement factor H for age-related macular degeneration in the Amish

Common Variants in KLHL2 and C4orf50 Are Associated with Poorer Anti-VEGF Treatment Response in Age-Related Macular Degeneration

Incomitance and Eye Dominance in Intermittent Exotropia

Choroidal and retinal angiopathy in V30M hereditary transthyretin amyloidosis

The Amish Eye Study: Baseline Quantitative Ocular Characteristics on a Unique Cohort

Contribution of AMD risk variants to the genetic architecture of choroidal thickness in the Amish

Genetic Variation in RRAGC Affects Progression Rate from Intermediate to Advanced Age-Related Macular Degeneration

Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH Locus

The heritability of choroidal thickness in the Amish

An Underadditivity of the Cellular Mechanisms Responsible for the Orientation Contrast Effects of the Rod-and-Frame Illusion

Identifying endophenotypes associated with age-related macular degeneration in the Amish using OCT

Rare Complement Factor H Variant Associated With Age-Related Macular Degeneration in the Amish

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