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ARVO Annual Meeting Abstract June 2022

ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

Kim C. Worley; Kristy Lee; Radha Ayyagari; Michael E Cheetham; Elfride De Baere; KERRY GOETZ; Robert K Koenekoop; Linyan Meng; MAXENCE NACHURY; Paul A Sieving; Lori S Sullivan; Christina Zeitz; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):624 – A0339. doi:

ARVO Annual Meeting Abstract June 2022

Efficacy and safety of sepofarsen, an intravitreal RNA antisense oligonucleotide, for the treatment of CEP290 -associated Leber congenital amaurosis (LCA10): a randomized, double-masked, sham-controlled, Phase 3 study (ILLUMINATE)

Bart Peter Leroy; Katarina Stingl; Isabelle S Audo; Camiel J F Boon; Fernanda Belga O Porto; Michel Michaelides; Helene Dollfus; L. Ingeborgh van den Born; Lyubomyr M Lytvynchuk; Francesca Simonelli; Juliana M F Sallum; Robert K Koenekoop; Elise Heon; Stephen R Russell; Michael Schwartz; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4536 – F0323. doi:

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. doi: https://doi.org/10.1167/iovs.62.7.27

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

Alfredo Dueñas Rey; Muhammad Imran Khan; Mubeen Khan; Miriam Bauwens; Toon Rosseel; Dror Sharon; Robert K Koenekoop; Gavin Arno; Andrew Webster; Carmel Toomes; Claire-Marie Dhaenens; Frans P.M. Cremers; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1451. doi:

ARVO Annual Meeting Abstract June 2021

Tear film cytokine profiles of Boston keratoprosthesis patients with and without glaucoma

Dominique Geoffrion; Marie-Claude Robert; Adriana Di Polo; Robert K Koenekoop; Younes Agoumi; Mona Harissi-Dagher

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):984. doi:

Cornea April 2021

Tear Film Cytokine Profile of Patients With the Boston Keratoprosthesis Type 1: Comparing Patients With and Without Glaucoma

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Dominique Geoffrion; Marie-Claude Robert; Adriana Di Polo; Robert K. Koenekoop; Younes Agoumi; Mona Harissi-Dagher
TAGS: cytokine, glaucoma, tear film finding, eye
Invest. Ophthalmol. Vis. Sci.. 2021; 62(4):20. doi: https://doi.org/10.1167/iovs.62.4.20

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Novel Incomplete Retinal Vascularization in a Joubert Syndrome patient and an AHI1 deletion.

Robert K Koenekoop; Catherine Liu; Ayesha Khan

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4504. doi:

Articles June 2019

Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies

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Claire S. Barnes; Ronald A. Schuchard; David G. Birch; Gislin Dagnelie; Leah Wood; Robert K. Koenekoop; Ava K. Bittner
TAGS: adult, child, kinetics, octopus, perimetry, reliability, retinal dystrophies
Trans. Vis. Sci. Tech.. 2019; 8(3):36. doi: https://doi.org/10.1167/tvst.8.3.36

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

A Natural History Study of Visual Function in Patients with Usher Syndrome Type 1C.

Meredith Harrell Hartman; Katelyn N. Robillard; Vincent Sun; Irma Lopez; Mariam Ibrahim; Kelsey Walsdorf; Maria Reinoso; Robert K Koenekoop; Jennifer J Lentz

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):48. doi:

ARVO Annual Meeting Abstract June 2017

Validating splice altering ‘variants of uncertain significance’ in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene

Justin Branch; Zachary Soens; Yumei Li; Keqing wang; mingchu xu; David G Birch; Fernanda Belga Ottoni Porto; Juliana M F Sallum; Peiquan Zhao; Ruifang Sui; Robert K Koenekoop; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5582. doi:

ARVO Annual Meeting Abstract June 2017

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

Muhammad Khan; Perez-Carro Raquel; Dror Sharon; Robert K Koenekoop; Carlo Rivolta; Elfride De Baere; Chris F Inglehearn; Susanne Kohl; Christian P Hamel; Tamar Ben-Yosef; Berta De la Cerda; Daniel F Schorderet; Sandro Banfi; Carmen Ayuso; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2758. doi:

ARVO Annual Meeting Abstract June 2017

Natural History of Inherited Retinal Disease (IRD) in Patients with Mutations in the Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Genes

Robert K Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2010. doi:

Genetics February 2017

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

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Vafa Keser; Ayesha Khan; Sorath Siddiqui; Irma Lopez; Huanan Ren; Raheel Qamar; Javad Nadaf; Jacek Majewski; Rui Chen; Robert K. Koenekoop
TAGS: family, genes, genetics, mutation, phenotype, retinal detachment, tissue dissection, homozygote, familial exudative vitreoretinopathies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(2):1028-1036. doi: https://doi.org/10.1167/iovs.16-20281

ARVO Annual Meeting Abstract September 2016

A novel heterozygous mutation in PRPH2/RDS gene causing a spectrum of phenotypic manifestations in a family with autosomal dominant retinitis pigmentosa (adRP)

Fares Antaki; Razek Georges Coussa; Christina Chakarova; Susan Wakil; Vincent Sun; Pierre Lachapelle; Allison Dorfman; Irma Lopez; Kunka Kamenarova; Shomi S Bhattacharya; Robert K Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):127. doi:

ARVO Annual Meeting Abstract September 2016

Molecular inversion probe based sequence analysis of 108 genes associated with non-syndromic inherited retinal disease in 4,000 probands

M Imran Khan; Gilissen Christian; Ayuso Carmen; Dror Sharon; Robert K Koenekoop; Carlo Rivolta; Elfride De Baere; Chris F Inglehearn; Alexander Hoischen; Frans P Cremers

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

ARVO Annual Meeting Abstract September 2016

Calcified crystalline material in peripheral lymphocytes in choroideremia- a novel discovery

Alice Yang Zhang; Vincent Sun; Hojatollah Vali; Jamie Koenekoop; Kelly Sears; Norma Fajardo; Irma Lopez; Nancy Braverman; Robert K Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6600. doi:

ARVO Annual Meeting Abstract September 2016

Beyond the Exon: Variants in regulatory and non-coding regions play a functional role in the pathogenesis of inherited retinal disease

Evan Jones; Justin Branch; Ruifang Sui; Robert K Koenekoop; Fernanda Belga Ottoni Porto; Aleksandar Milosavljevic; Yumei Li; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2062. doi:

Genetics December 2015

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population

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Razek Georges Coussa; Christina Chakarova; Radwan Ajlan; Mohammed Taha; Conrad Kavalec; Julius Gomolin; Ayesha Khan; Irma Lopez; Huanan Ren; Naushin Waseem; Kunka Kamenarova; Shomi S. Bhattacharya; Robert K. Koenekoop
TAGS: french, genotype, mutation, phenotype, retinitis pigmentosa, genes, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):8297-8305. doi: https://doi.org/10.1167/iovs.15-17104

Includes: Supplemental Content

Retina December 2015

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

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Alice Yang Zhang; Naveen Mysore; Hojatollah Vali; Jamie Koenekoop; Sang Ni Cao; Shen Li; Huanan Ren; Vafa Keser; Irma Lopez-Solache; Sorath Noorani Siddiqui; Ayesha Khan; Jeannie Mui; Kelly Sears; Jim Dixon; Jeremy Schwartzentruber; Jacek Majewski; Nancy Braverman; Robert K. Koenekoop
TAGS: choroideremia, fatty acids, lipids, lymphocytes, plasma, systemic disease, tissue membrane
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):8158-8165. doi: https://doi.org/10.1167/iovs.14-15751

ARVO Annual Meeting Abstract June 2015

Hypomorphic mutations in CLUAP1 cause Leber congenital amaurosis

Zachry Soens; Yuanyuan Li; Li Zhao; Yumei Li; Zhaoxia Sun; Ayesha Khan; Norma Fajardo; Irma Lopez; Robert K Koenekoop; Rui Chen; Genetics of Leber congenital amaurosis

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4349. doi:

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ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

Efficacy and safety of sepofarsen, an intravitreal RNA antisense oligonucleotide, for the treatment of CEP290 -associated Leber congenital amaurosis (LCA10): a randomized, double-masked, sham-controlled, Phase 3 study (ILLUMINATE)

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

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

Tear film cytokine profiles of Boston keratoprosthesis patients with and without glaucoma

Tear Film Cytokine Profile of Patients With the Boston Keratoprosthesis Type 1: Comparing Patients With and Without Glaucoma

Novel Incomplete Retinal Vascularization in a Joubert Syndrome patient and an AHI1 deletion.

Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies

A Natural History Study of Visual Function in Patients with Usher Syndrome Type 1C.

Validating splice altering ‘variants of uncertain significance’ in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

Natural History of Inherited Retinal Disease (IRD) in Patients with Mutations in the Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Genes

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

A novel heterozygous mutation in PRPH2/RDS gene causing a spectrum of phenotypic manifestations in a family with autosomal dominant retinitis pigmentosa (adRP)

Molecular inversion probe based sequence analysis of 108 genes associated with non-syndromic inherited retinal disease in 4,000 probands

Calcified crystalline material in peripheral lymphocytes in choroideremia- a novel discovery

Beyond the Exon: Variants in regulatory and non-coding regions play a functional role in the pathogenesis of inherited retinal disease

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

Hypomorphic mutations in CLUAP1 cause Leber congenital amaurosis

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