Scientific Publications

Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degeneration

Professional(s) : Isabelle MEUNIER, Isabelle Audo, Christina Zeitz

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France

XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa

Professional(s) : Isabelle MEUNIER

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France

Working group(s) : Retinal Rare Eye Diseases (WG1)

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

Professional(s) : Isabelle Audo, Isabelle MEUNIER

Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France

Working group(s) : Retinal Rare Eye Diseases (WG1)

Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy

Professional(s) : Isabelle MEUNIER

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France

Differential pathogenetic mechanisms of mutations in helix 2 and helix 6 of rhodopsin

Professional(s) : Isabelle MEUNIER

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France

The phenotypic spectrum of CEP250 gene variants

Professional(s) : Isabelle Audo, Isabelle MEUNIER

Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France

A Prospective, Observational, Non-interventional Clinical Study of Participants With Choroideremia: The NIGHT Study

Professional(s) : Isabelle MEUNIER

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France

Working group(s) : Retinal Rare Eye Diseases (WG1)

Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy

Professional(s) : Isabelle MEUNIER

Center(s) : Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France

Working group(s) : Retinal Rare Eye Diseases (WG1)

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

Professional(s) : Isabelle Audo, Ingele Casteels, João Pedro Marques, Christina Zeitz, Elfride DE BAERE

Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; University Hospitals Leuven, Belgium ; Unidade Local de Saúde de Coimbra (ULS de Coimbra), Coimbra, Portugal ; Ghent University Hospital, Ghent, Belgium

Working group(s) : Retinal Rare Eye Diseases (WG1)

RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec

Professional(s) : Katarina Stingl, Claudia Priglinger, Philipp Herrmann

Center(s) : Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Klinikum der Universität München, Germany ; University of Bonn, Germany

Working group(s) : Retinal Rare Eye Diseases (WG1)