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ARVO Annual Meeting Abstract June 2024

Novel clinical observations and genetic spectrum in 241 patients with PRPH2 -associated retinopathy.

Rachael C Heath Jeffery; Andrea L Vincent; Jennifer Thompson; Johnny Lo; Enid Chelva; Sean Armstrong; Tina Lamey; Samuel McLenachan; Danial Roshandel; Terri McLaren; Fred Kuanfu Chen

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):454.

ARVO Annual Meeting Abstract June 2024

Enhancing Variant Curation Guidelines to Optimize Clinical Genetic Testing for ABCA4 Retinopathies Utilizing the ClinGen Framework

Kristy Lee; Amber Waddell; C. Blair Compton; Stéphanie S. Cornelis; Amy Dameron; Marieke De Bruyne; Miriam Bauwens; Mathieu Quinodoz; Eva Lenassi; Robyn Jamieson; Claire-Marie Dhaenhens; Andrea L Vincent; Abby T Fahim; Frans Cremers; Elfride De Baere; Robert Hufnagel

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):452.

ARVO Annual Meeting Abstract June 2024

Rapid molecular diagnosis in pediatric cataract using gene panel testing

Sarah Hull; Nusha Mirza; Andrea L Vincent

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4646.

ARVO Annual Meeting Abstract June 2024

PRPH2 Gene Mutations and Associated Phenotypes in IRD patients with diverse genetic background.

Christopher Hallock; Riccardo Sangermano; Elfride De Baere; Siying Lin; Jennifer Thompson; Pascal Escher; Andrea L Vincent; Kaylie D Webb-Jones; Monika Grudzinska Pechhacker; Jacque L Duncan; Samer Khateb; Tamar Ben-Yosef; David G Birch; Andrew Webster; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5297.

ARVO Annual Meeting Abstract June 2024

Ophthalmic manifestations of short-chain enoyl-CoA hydratase deficiency associated with a hypomorphic founder allele in ECHS1 inthe Pacific peoples population

Andrea L Vincent; Isaac Bernhardt; Anne-Marie Yardley; Bryony Ryder; Erik Andersen; Callum Wilson; Colina McKeown; Christina Buchanan; Richard Roxburgh; Stephen Robertson; Emma Glamuzina

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5293.

Retina May 2024

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

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Rachael C. Heath Jeffery; Jennifer A. Thompson; Johnny Lo; Enid S. Chelva; Sean Armstrong; Jose S. Pulido; Rebecca Procopio; Andrea L. Vincent; Lorenzo Bianco; Maurizio Battaglia Parodi; Lucia Ziccardi; Giulio Antonelli; Lucilla Barbano; João P. Marques; Sara Geada; Ana L. Carvalho; Wei C. Tang; Choi M. Chan; Camiel J. F. Boon; Jonathan Hensman; Ta-Ching Chen; Chien-Yu Lin; Pei-Lung Chen; Ajoy Vincent; Anupreet Tumber; Elise Heon; John R. Grigg; Robyn V. Jamieson; Elisa E. Cornish; Benjamin M. Nash; Shyamanga Borooah; Lauren N. Ayton; Alexis Ceecee Britten-Jones; Thomas L. Edwards; Jonathan B. Ruddle; Abhishek Sharma; Rowan G. Porter; Tina M. Lamey; Terri L. McLaren; Samuel McLenachan; Danial Roshandel; Fred K. Chen
TAGS: genetics, phenotype, retinal dystrophies, fundus autofluorescence imaging, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2024; 65(5):22. https://doi.org/10.1167/iovs.65.5.22

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Targeted sequencing using single-molecule Molecular Inversion Probes reveals severe bi-allelic ABCA4 alleles in probands diagnosed with Leber congenital amaurosis

Daan Panneman; Susanne Roosing; Erica G.M Boonen; Chris Inglehearn; Martin McKibbin; Elfride De Baere; Thomy de Ravel; Sascha Vermeer; Andrea L Vincent; Robert K Koenekoop; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4518.

ARVO Annual Meeting Abstract June 2023

Clinical and molecular characterization of foveal hypoplasia

Sarah Hull; Jay Kumar; Andrea L Vincent

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):453.

ARVO Annual Meeting Abstract June 2023

Genotype and Phenotypic investigation of a New Zealand Cohort of Inherited Optic neuropathies

Andrea L Vincent; Glynis Hanrahan; Sarah Hull

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2777.

ARVO Annual Meeting Abstract June 2022

Characterising the natural history of retinal degeneration progression associated with a founder mutation in the PDE6B gene.

Andrea L Vincent; Elena Edgar - Nemec; Sarah Hull

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):620 – A0335.

ARVO Annual Meeting Abstract June 2022

Lamination of the outer plexiform layer in dominant Wolfram disease

Sarah Hull; Andrea L Vincent

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):513 – A0090.

Retina December 2021

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

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Monika K. Grudzinska Pechhacker; Samuel G. Jacobson; Arlene V. Drack; Matteo Di Scipio; Ine Strubbe; Wanda Pfeifer; Jacque L. Duncan; Helene Dollfus; Nathalie Goetz; Jean Muller; Andrea L. Vincent; Tomas S. Aleman; Anupreet Tumber; Caroline Van Cauwenbergh; Elfride De Baere; Emma Bedoukian; Bart P. Leroy; Jason T. Maynes; Francis L. Munier; Erika Tavares; Eman Saleh; Ajoy Vincent; Elise Heon
TAGS: natural history, phenotype, retinal degeneration, vision, cohort studies, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2021; 62(15):26. https://doi.org/10.1167/iovs.62.15.26

ARVO Annual Meeting Abstract June 2021

Phenotypic variability of WFS1 related eye disease

Sarah Hull; Leo Sheck; Alec Hou; Andrea L Vincent

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1563.

ARVO Annual Meeting Abstract June 2021

Childhood and Early-Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry

Lachlan Knight; Jonathan B Ruddle; Deepa A Taranath; Ivan Goldberg; James EH Smith; Glen Gole; Mark Y Chiang; Sean Mullany; James E Elder; Andrea L Vincent; Sandra Staffieri; David A Mackey; Susie Luu; Owen M Siggs; Emmanuelle Souzeau; Jamie E Craig

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1515.

ARVO Annual Meeting Abstract June 2021

Natural history study of visual function in patients with BBS1- and BBS10 -related retinal degeneration.

Monika Grudzinska Pechhacker; Samuel G Jacobson; Arlene V Drack; Matteo Di Scipio; Ine Stubbe; Jacque L Duncan; Helene Dollfus; Andrea L Vincent; Tomas S Aleman; Bart Leroy; Jason Maynes; Francis Munier; Erika Tavares; Eman Saleh; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3284.

ARVO Annual Meeting Abstract June 2021

Harboyan Syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection

Andrea L Vincent; Gulunay Kiray; Sarah Hull

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1498.

ARVO Annual Meeting Abstract June 2021

Symmetry Between Left and Right Eyes in Bietti Crystalline Dystrophy

Zhengyang Liu; Lauren N Ayton; Fleur O'Hare; Janan Arslan; Monica Hu; Jiang-Hui Wang; Doron G Hickey; Myra McGuinness; Andrea L Vincent; Fred Kuanfu Chen; Thomas L Edwards

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1872.

ARVO Annual Meeting Abstract June 2021

Whole genome sequencing and UMI-4C provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis -regulatory disease

Stijn Van de Sompele; Eva D'haene; Thijs Van der Snickt; Sarah Vergult; Petra Liskova; Fadi Shaya; Karen Nuytemans; Jeffery M Vance; Margaret A Pericak-Vance; Andrea L Vincent; Steven Agemy; Kent W Small; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3.

ARVO Annual Meeting Abstract June 2020

Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy

Sarah Hull; Gulunay Kiray; John Chiang; Andrea L Vincent

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2383.

ARVO Annual Meeting Abstract June 2020

Detailed characterization of an inherited optic atrophy cohort demonstrates highly variable phenotypes and uncommon molecular associations

Andrea L Vincent; Alec Lin Hou; Sarah Hull; Leo Sheck

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2404.

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Novel clinical observations and genetic spectrum in 241 patients with PRPH2 -associated retinopathy.

Enhancing Variant Curation Guidelines to Optimize Clinical Genetic Testing for ABCA4 Retinopathies Utilizing the ClinGen Framework

Rapid molecular diagnosis in pediatric cataract using gene panel testing

PRPH2 Gene Mutations and Associated Phenotypes in IRD patients with diverse genetic background.

Ophthalmic manifestations of short-chain enoyl-CoA hydratase deficiency associated with a hypomorphic founder allele in ECHS1 inthe Pacific peoples population

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

Targeted sequencing using single-molecule Molecular Inversion Probes reveals severe bi-allelic ABCA4 alleles in probands diagnosed with Leber congenital amaurosis

Clinical and molecular characterization of foveal hypoplasia

Genotype and Phenotypic investigation of a New Zealand Cohort of Inherited Optic neuropathies

Characterising the natural history of retinal degeneration progression associated with a founder mutation in the PDE6B gene.

Lamination of the outer plexiform layer in dominant Wolfram disease

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

Phenotypic variability of WFS1 related eye disease

Childhood and Early-Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry

Natural history study of visual function in patients with BBS1- and BBS10 -related retinal degeneration.

Harboyan Syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection

Symmetry Between Left and Right Eyes in Bietti Crystalline Dystrophy

Whole genome sequencing and UMI-4C provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis -regulatory disease

Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy

Detailed characterization of an inherited optic atrophy cohort demonstrates highly variable phenotypes and uncommon molecular associations

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