Search | TVST | ARVO Journals

tvst

Issues
Topics
For Authors
About
- Editorial Board

Journals Home

MANAGE ALERTS

Access Provided By:
MIT Libraries

Forgot password?

Create an Account

To View More...

Purchase this article with an account.

or

Subscribe Now

Issues
Topics
For Authors
About
- Editorial Board

Narrow View

NARROW

Content Type

Meeting Abstract (9)
Journal Articles (4)

Journal

Investigative Ophthalmology & Visual Science (12)
Translational Vision Science & Technology (1)

Article Type

ARVO Annual Meeting Abstract (9)
Genetics (2)
Articles (1)
Retina (1)

Topics

Genetics (4)
Eye Anatomy and Disorders (3)
Retina (2)
Low Vision (1)
Translational Research (1)

Tags

phenotype (3)
cohort studies (2)
autosomal recessive inheritance (1)
child (1)
electroretinography (1)
eye (1)
eye manifestations (1)
family (1)
genetic pedigree (1)
genetics (1)

Specify Date Range

From: To: Apply

Showing 1 – 13 of 13

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

ARVO Annual Meeting Abstract June 2023

Characterization of the Retinal Phenotype in PYGM -related McArdle Disease

Alaa Tayyib; Rowaida Hussein; Anupreet Tumber; Kashif Ahmed; Erika Tavares; Chantal Morel; Graeme Nimmo; Mark Tarnopolsy; Elise Heon; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1555.

Articles February 2022

Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1

PDF

Mariana Flores Pimentel; Anna Heath; Michael J. Wan; Rowaida Hussein; Kate E. Leahy; Heather MacDonald; Erika Tavares; Cynthia VandenHoven; Katelyn MacNeill; Peter Kannu; Patricia C. Parkin; Elise Heon; Arun Reginald; Ajoy Vincent
TAGS: child, eye manifestations, lesch-nyhan syndrome, lisch nodules, neurofibromatosis 1, pediatrics, prevalence, molecular diagnostic techniques, cohort studies
Trans. Vis. Sci. Tech.. 2022; 11(2):10. https://doi.org/10.1167/tvst.11.2.10

Retina December 2021

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

PDF

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

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

The Role of Extended Phenotyping and Functional Testing in Variant Interpretation of a Complex Patient with Overlapping Traits

Zhuo Shao; Ikuo Masuho; Anupreet Tumber; Jason Maynes; Erika Tavares; Stacy Hewson; Andreas Schulze; Peter Kannu; Kirill A Martemyanov; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1562.

ARVO Annual Meeting Abstract June 2021

Optic atrophy and inner retinal thinning in CACNA1F -related congenital stationary night blindness

Kate E Leahy; Tom Wright; Monika K Grudzinska Pechhacker; Isabelle Audo; Anupreet Tumber; Erika Tavares; Heather MacDonald; Jeff Locke; Cynthia VandenHoven; Christina Zeitz; Elise Heon; J Raymond Buncic; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1522.

Genetics August 2020

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

PDF

Matteo Di Scipio; Erika Tavares; Shriya Deshmukh; Isabelle Audo; Kit Green-Sanderson; Yuliya Zubak; Fayçal Zine-Eddine; Alexander Pearson; Anjali Vig; Chen Yu Tang; Antonio Mollica; Jonathan Karas; Anupreet Tumber; Caberry W. Yu; Gail Billingsley; Michael D. Wilson; Christina Zeitz; Elise Héon; Ajoy Vincent
TAGS: genetic pedigree, introns, phenotype, retinal dystrophies, reverse transcriptase polymerase chain reaction, rna splicing, whole genome sequencing
Invest. Ophthalmol. Vis. Sci.. 2020; 61(10):36. https://doi.org/10.1167/iovs.61.10.36

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Discovery of novel disease-causing mutations in inherited retinal dystrophies – an application to retinitis pigmentosa

Caberry W. Yu; Erika Tavares; Vaishnavi Batmanabane; Ajoy Vincent; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4475.

ARVO Annual Meeting Abstract July 2019

A Novel Autosomal Dominant Retinal Dystrophy: Phenotypic description and Preliminary Genetic Investigations in a Pedigree.

Ajoy Vincent; Matteo DiScipio; Erika Tavares; Nicole Roslin; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5050.

ARVO Annual Meeting Abstract July 2019

The number of RPGR cases remains under-represented

Elise Heon; Anjali Vig; Erika Tavares; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):389.

ARVO Annual Meeting Abstract September 2016

Whole Exome Sequencing Identifies Mutations in GNB3 to Cause a Novel Congenital Stationary Night Blindness Phenotype

Ajoy Vincent; Erika Tavares; Isabelle S Audo; jason maynes; Shuning Li; Christelle Michiels; Anupreet Tumber; Heather Macdonald; Chelsea Roadhouse; Christina Zeitz; Elise Heon

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

ARVO Annual Meeting Abstract September 2016

SRD5A3 : a gene for complex LCA and early onset retinal dystrophy

Elise Heon; Shuning Li; Erika Tavares; Heather Macdonald; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3134.

Genetics May 2016

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis

PDF

Ajoy Vincent; Judith Ng; Christina Gerth-Kahlert; Erika Tavares; Jason T. Maynes; Thomas Wright; Amit Tiwari; Anupreet Tumber; Shuning Li; James V. M. Hanson; Angela Bahr; Heather MacDonald; Luzy Bähr; Carol Westall; Wolfgang Berger; Frans P. M. Cremers; Anneke I. den Hollander; Elise Héon
TAGS: autosomal recessive inheritance, family, genetics, mutation, phenotype, retinoschisis, eye, relationship - sibling, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2016; 57(6):2637-2646. https://doi.org/10.1167/iovs.15-18281

Includes: Supplemental Content

« Previous

Advertisement

Follow @ARVOtvst

TVST Home
Issues
Topics
For Authors

About
- Editorial Board

Online ISSN: 2164-2591

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

JOURNALS HOME
TOPICS
ABOUT ARVO JOURNALS

Copyright © 2025 Association for Research in Vision and Ophthalmology.

Access Provided By:
MIT Libraries

Forgot password?

To View More...

Purchase this article with an account.

Create an Account

or

Subscribe Now

×

×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×

This site uses cookies. By continuing to use our website, you are agreeing to our privacy policy.Accept