Isabelle Audo

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Université Pierre et Marie Curie

France

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Isabelle Audo is a Professor at Université Pierre et Marie Curie in France. Her research focuses on inherited retinal dystrophies, particularly in the genetic underpinnings and therapeutic interventions for conditions such as Usher syndrome and retinitis pigmentosa. Recent publications include studies on the efficacy of voretigene neparvovec and advancements in genetic sequencing techniques for retinal diseases.

Isabelle Audo

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Articles (19)

Voretigene neparvovec in RPE65-related inherited retinal dystrophy: the 1-year real-world study LIGHT

Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE Study

RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes

Extensive Macular Atrophy with Pseudodrusen-like appearance

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa

Functional Vision in Patients With Biallelic USH2A Variants

Multifocal vitelliform lesions associated with mitochondrial retinopathy

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Generation of gene corrected human isogenic iPSC lines (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (IDVi003-A) carrying the ITM2B c.782A > C variant using CRISPR/Cas9

Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17)

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Three‐Year Safety Results of SAR422459 (EIAV‐ABCA4) Gene Therapy in Patients With ABCA4‐Associated Stargardt Disease: An Open‐Label Dose‐Escalation Phase I/IIa Clinical Trial, Cohorts 1‐5

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease

Didanosine-induced Retinopathy: New Insights with Long-term Follow-up

Extreme Interocular Asymmetry in an Atypical Case of a Hydroxychloroquine-Related Retinopathy

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

Large Benefit from Simple Things: High-Dose Vitamin A Improves <i>RBP4</i>-Related Retinal Dystrophy

A Rare Case of Didanosine-Induced Mid-Peripheral Chorioretinal Atrophy Identified Incidentally 11 Years after the Drug Cessation

Collaborators (17)

Gislin Dagnelie

Bart Peter LEROY

Thomy de Ravel

Anne Bergougnoux

Delphine Blain

Katarina Stingl

Ditta Zobor

Jacque Duncan

Jessica Gardner

Karolina Kaminska

Francesco Benedicenti

Petra Liskova

Peggy Reuter

Dongseok Choi

John Neidhardt

Line Kessel

Paola Carrera

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