Search | IOVS | ARVO Journals

iovs

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 (12)
Journal Articles (3)

Journal

Investigative Ophthalmology & Visual Science (15)

Article Type

ARVO Annual Meeting Abstract (12)
Retina (2)
Clinical and Epidemiologic Research (1)

Topics

Genetics (3)
Retina (2)
Clinical and Epidemiologic Research (1)
Eye Anatomy and Disorders (1)

Tags

phenotype (3)
mutation (2)
retinitis pigmentosa (2)
albinism (1)
albinism, oculocutaneous (1)
atypical (1)
family (1)
foveal hypoplasia (1)
french (1)
genotype (1)

Specify Date Range

From: To: Apply

Showing 1 – 15 of 15

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

Retina April 2025

Phenotypic and Genotypic Characterization of RP1L1 -Associated Retinopathy

PDF

Alessio Antropoli; Lorenzo Bianco; Xavier Zanlonghi; Amine Benadji; Christel Condroyer; Aline Antonio; Julien Navarro; Claire-Marie Dhaenens; José-Alain Sahel; Christina Zeitz; Isabelle Audo
TAGS: atypical, genotype, phenotype, retinal diseases, retinitis pigmentosa, macular dystrophy
Invest. Ophthalmol. Vis. Sci.. 2025; 66(4):7. https://doi.org/10.1167/iovs.66.4.7

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Peripapillary Retinal Nerve Fiber Layer Relation in Autosomal Dominant Optic Atrophy

Christina Eckmann-Hansen; Toke Bek; Birgit Sander; Isabelle Meunier; Béatrice Bocquet; Xavier Zanlonghi; Guy Lenaers; Michael Larsen

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):70.

ARVO Annual Meeting Abstract June 2023

MYH10 heterozygous variants cause a dominant phenotype associating coloboma and ptosis reminiscent of the Baraitser-Winter syndrome spectrum

Helene Dollfus; Séverine Bär; Ariane Kröll-Hermi; Anita Korpioja; Clarisse Delvallée; Samira Secula; Véronique Geoffroy; Elise Schaefer; Christelle Etard; Corinne Stoetzel; Uwe Strähle; Xavier Zanlonghi; Jean Muller; Elisa Rahikkala; Sylvie Friant; Sophie Scheidecker

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4531.

ARVO Annual Meeting Abstract June 2023

OPA1 deletions account for 26% of cases with autosomal dominant optic atrophy (ADOA, Kjer disease)

Xavier ZANLONGHI; Guy Lenaers; Majida charif; Anne Barrucand; Agnès GUICHET; Pascal Reynier; Valèrie Desquiret-Dumas; Patrizia Amati-Bonneau

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4112.

Clinical and Epidemiologic Research January 2022

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

PDF

Charlotte C. Kruijt; Libe Gradstein; Arthur A. Bergen; Ralph J. Florijn; Benoit Arveiler; Eulalie Lasseaux; Xavier Zanlonghi; Laura Bagdonaite-Bejarano; Anne B. Fulton; Claudia Yahalom; Anat Blumenfeld; Yonatan Perez; Ohad S. Birk; Gerard C. de Wit; Nicoline E. Schalij-Delfos; Maria M. van Genderen
TAGS: albinism, albinism, oculocutaneous, foveal hypoplasia, phenotype, syndrome, pathologic nystagmus, mutation
Invest. Ophthalmol. Vis. Sci.. 2022; 63(1):19. https://doi.org/10.1167/iovs.63.1.19

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Evaluation of a new technique for the comparison of wide field eye fundus images and perimetry

Jacques R Charlier; Xavier Zanlonghi

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2823.

ARVO Annual Meeting Abstract July 2019

CPH1, a new gene for Dominant Optic Atrophy

Cecile Delettre Cribaillet; Camille Mégy; Xavier Zanlonghi; Isabelle Anne Meunier; Marie O Pequignot; Mélanie Quiles; Christian Hamel; Agathe Roubertie; Nicole Weisschuh; Béatrice Bocquet; Guy Lenaers; Gael Manes; Bernd Wissinger; Maria Solà Vilarrubias; Hans Spelbrink; Emmanuelle Sarzi

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2811.

ARVO Annual Meeting Abstract July 2019

Targeted identification of reported deep-intronic variants in ABCA4 in 224 French Stargardt disease cases

Claire-Marie DHAENENS; Mubeen Khan; Aurore Devos; Charlene Piriou; Duaa ELMELIK; Eline Manders; Emeline Goreki; Yaumara Perdomo; Helene Dollfus; Xavier Zanlonghi; Béatrice Bocquet; Isabelle Anne Meunier; Bernard Puech; Sabine defoort; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4930.

ARVO Annual Meeting Abstract July 2018

Mutations in IMPG1 cause autosomal dominant and recessive retinitis pigmentosa

Gael Manes; Xavier ZANLONGHI; Carmen Ayuso; Graeme Black; Guillaume OLIVIER; Béatrice Bocquet; Audrey Sénéchal; Isabelle Meunier; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2322.

ARVO Annual Meeting Abstract September 2016

Video imaging during visual field perimetry

Jacques R Charlier; Xavier Zanlonghi

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3387.

ARVO Annual Meeting Abstract June 2015

Feasibility of computerized confrontation perimetry in young infants

Jacques R Charlier; Xavier Zanlonghi

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1403.

ARVO Annual Meeting Abstract April 2014

Phenotypic features related to Wolfram syndrome in 17 families

Stephanie Leruez; Verschoore Marion; Johanna Grenier; Xavier Zanlonghi; Christian P Hamel; Christophe Orssaud; Catherine Vignal-Clermont; Vincent Pascal Procaccio Reynier; Patrizia Dominique Bonneau; Dan Milea

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6423.

ARVO Annual Meeting Abstract June 2013

Whole exome sequencing identifies mutations in LRIT3 as a cause for autosomal recessive complete congenital stationary night blindness

Christina Zeitz; Samuel Jacobson; Christian Hamel; Kinga Bujakowska; Marion Neuillé; Elise Orhan; Xavier Zanlonghi; Jose Sahel; Shomi Bhattacharya; Isabelle Audo; CSNB study group

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3350.

ARVO Annual Meeting Abstract June 2013

Screening of PRPH2/RDS in patients with autosomal dominant retinitis pigmentosa reveals novel disease-causing mutations and 8.6% prevalence in French population

Gael Manes; Claire-Marie Dhaenens; Werner Vos; Isabelle Audo; Xavier Zanlonghi; Sylvie Odent; Helene Dollfus; Beatrice Bocquet; Isabelle Meunier; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):659.

Retina July 2010

Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod–Cone Dystrophy Patients

PDF

Isabelle Audo; Gaël Manes; Saddek Mohand-Saïd; Anne Friedrich; Marie-Elise Lancelot; Aline Antonio; Veselina Moskova-Doumanova; Oliver Poch; Xavier Zanlonghi; Christian P. Hamel; José-Alain Sahel; Shomi S. Bhattacharya; Christina Zeitz
TAGS: french, mutation, retinitis pigmentosa, rhodopsin, family, phenotype
Invest. Ophthalmol. Vis. Sci.. 2010; 51(7):3687-3700. https://doi.org/10.1167/iovs.09-4766

« Previous

Advertisement

Follow @ARVOiovs

IOVS Home
Issues
Topics
For Authors
About
- Editorial Board

Online ISSN: 1552-5783

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