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Retina December 2018

Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 Months

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Mark E. Pennesi; David G. Birch; K. Thiran Jayasundera; Maria Parker; Ou Tan; Rabia Gurses-Ozden; Carrie Reichley; Kathleen N. Beasley; Paul Yang; Richard G. Weleber; Lea D. Bennett; John R. Heckenlively; Kalyani Kothapalli; Jeffrey D. Chulay; for the XLRS-001 Study Group
TAGS: atrophy, contrast sensitivity, cysts, electroretinography, perimetry, vision, visual acuity, eye, kinetics, retina, x-linked retinoschisis, volume, cutaneous collagenous vasculopathy, reading speed
Invest. Ophthalmol. Vis. Sci.. 2018; 59(15):5941-5956. doi: 10.1167/iovs.18-24565

Includes: Supplemental Content

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. doi:

ARVO Annual Meeting Abstract July 2018

Deciphering the genetic architecture of IRD by integrated analysis of 425 whole genomes

Radha Ayyagari; Pooja Biswas; Angel Soto Hermida; Kari E Branham; Hiroko Matsui; Adda L Villanueva; Amalio Talenti; Akhila Alapati; Aditya Ayyagari Guru; Bonnie Huang; Sheikh Riazuddin; John Heckenlively; Paul Sieving; Jacque L Duncan; S Amer Riazuddin; Kelly A. Frazer

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4468. doi:

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. doi:

Genetics August 2017

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

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Christina Gerth-Kahlert; Amit Tiwari; James V. M. Hanson; Vaishnavi Batmanabane; Elias Traboulsi; Mark E. Pennesi; Abdullah A. Al-Qahtani; Byron L. Lam; John Heckenlively; Sandrine A. Zweifel; Ajoy Vincent; Fabienne Fierz; Daniel Barthelmes; Kari Branham; Naheed Khan; Angela Bahr; Luzy Baehr; István Magyar; Samuel Koller; Silvia Azzarello-Burri; Dunja Niedrist; Elise Heon; Wolfgang Berger
TAGS: phenotype, mutation, genes, retinitis pigmentosa, autosomal recessive inheritance, macular disorders, morphology, de novo mutation, language morphology
Invest. Ophthalmol. Vis. Sci.. 2017; 58(10):3840-3850. doi: 10.1167/iovs.17-21597

ARVO Annual Meeting Abstract June 2017

Optical coherence tomography examination of the retinal pigment epithelium and vitelliform lesions in Best vitelliform macular dystrophy

Cynthia Xin-Ya Qian; Dionisio Charran; Cameron R Strong; Timothy J Steffens; Thiran Jayasundera; John Heckenlively

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3229. doi:

ARVO Annual Meeting Abstract June 2017

Progressive Loss of Rod Sensitivity in Patients with Autosomal Dominant Retinitis Pigmentosa (adRP) due to RHO Pro23His Mutation

Kirsten G Locke; Sarah Duwel; Artur V Cideciyan; David B. McGuigan; Alessandro Iannaccone; John Heckenlively; Samuel G Jacobson; Michael McCaleb; David G Birch

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3259. doi:

ARVO Annual Meeting Abstract June 2017

Contribution of Th1 and Th17 Cell Responses toward Recoverin Retinal Autoantigen to the Pathogenesis of Autoimmune Retinopathy

Enayat Nikoopour; Cheng-mao Lin; Ray Ohara; John R Heckenlively; Steven K Lundy

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):540. doi:

ARVO Annual Meeting Abstract June 2017

Importance of Checking for Active Autoimmunity in Genetically-Confirmed Retinal Dystrophy Patients

Steven K Lundy; Athanasios J Karoukis; Ray Ohara; Enayat Nikoopour; Mohammad I Othman; Maria Fernanda Abalem; Thiran Jayasundera; Kari E Branham; John R Heckenlively

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):556. doi:

ARVO Annual Meeting Abstract June 2017

Peripheral pigmented lesions in Stargardt disease

Maria Fernanda Abalem; Peter Yu Cheng Zhao; Daniel Nadelman; Cynthia Xin-Ya Qian; Kari E Branham; Dana Schlegel; Naheed Wali Khan; John R Heckenlively; Thiran Jayasundera

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3262. doi:

ARVO Annual Meeting Abstract June 2017

Identification of pathogenic mutations in patients with inherited retinal dystrophies using whole genome sequencing

Kari E Branham; Pooja Biswas; Luis Alexandre Rassi Gabriel; Angel Soto-Hermida; Hiroko Matsui; Amalio Telenti; Kelly A Frazer; John R Heckenlively; Paul A Sieving; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2754. doi:

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. doi:

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: mutation, arrestin, family, genes, hispanics or latinos, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2774-2784. doi: 10.1167/iovs.16-21341

ARVO Annual Meeting Abstract September 2016

Characteristics of 3’ORF15 mutations in RPGR

Kari E Branham; Naheed W Khan; Dana Schlegel; Kanishka Thiran Jayasundera; John R Heckenlively

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

ARVO Annual Meeting Abstract September 2016

Reliability of kinetic visual field testing in children with mutation-proven retinal dystrophies: implications in therapeutic clinical trials

Vaidehi S Dedania; Jerry Yi Liu; Dana Schlegel; Chris A Andrews; Kari Branham; Naheed W Khan; John R Heckenlively; Kanishka Thiran Jayasundera

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):5387. doi:

ARVO Annual Meeting Abstract June 2015

Whole exome sequencing reveals novel pathways implicated in age-related macular degeneration

Rinki Ratna Priya; Samuel Perez; Mousumi Mutsuddi; Vijender Chaitankar; Mohammad Othman; John Heckenlively; Kari Branham; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):789. doi:

ARVO Annual Meeting Abstract June 2015

Occult optic neuropathy: A newly recognized disorder which superficially mimics RP

John R Heckenlively; Naheed W Khan

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3796. doi:

ARVO Annual Meeting Abstract June 2015

Outer segment thickness rather than total retina thickness predicts macular function in X-Linked Retinoschisis (XLRS)

Lea D Bennett; Mark E Pennesi; Joycelyn Niimi; David J Wilson; Laura Erker; Maria Parker; John R Heckenlively; Kari E Branham; David G Birch

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3834. doi:

ARVO Annual Meeting Abstract June 2015

Analysis of visual acuity and cyst volume measurements in a natural history study in X-Linked Retinoschisis (XLRS)

Mark E Pennesi; Ou Tan; Maria Parker; Laura Erker; Lea D Bennett; David Huang; David G Birch; John R Heckenlively; Jeffrey D Chulay; David J Wilson

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3835. doi:

ARVO Annual Meeting Abstract June 2015

Genetic Testing in an Inherited Retinal Dystrophy Clinic

Kari E Branham; Dana Schlegel; Naheed W Khan; Thiran Jayasundera; John R Heckenlively

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3843. doi:

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Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 Months

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

Deciphering the genetic architecture of IRD by integrated analysis of 425 whole genomes

The journey from clinical to genetic diagnosis in Stargardt disease

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

Optical coherence tomography examination of the retinal pigment epithelium and vitelliform lesions in Best vitelliform macular dystrophy

Progressive Loss of Rod Sensitivity in Patients with Autosomal Dominant Retinitis Pigmentosa (adRP) due to RHO Pro23His Mutation

Contribution of Th1 and Th17 Cell Responses toward Recoverin Retinal Autoantigen to the Pathogenesis of Autoimmune Retinopathy

Importance of Checking for Active Autoimmunity in Genetically-Confirmed Retinal Dystrophy Patients

Peripheral pigmented lesions in Stargardt disease

Identification of pathogenic mutations in patients with inherited retinal dystrophies using whole genome sequencing

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

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

Characteristics of 3’ORF15 mutations in RPGR

Reliability of kinetic visual field testing in children with mutation-proven retinal dystrophies: implications in therapeutic clinical trials

Whole exome sequencing reveals novel pathways implicated in age-related macular degeneration

Occult optic neuropathy: A newly recognized disorder which superficially mimics RP

Outer segment thickness rather than total retina thickness predicts macular function in X-Linked Retinoschisis (XLRS)

Analysis of visual acuity and cyst volume measurements in a natural history study in X-Linked Retinoschisis (XLRS)

Genetic Testing in an Inherited Retinal Dystrophy Clinic

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