Scientific Publications

The burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): findings from the EXPLORE XLRP-2 study

Professional(s) : Francesco PARMEGGIANI, Dominique BREMOND-GIGNAC, Katarina Stingl, Markus Ritter

Center(s) : Center for Retinitis Pigmentosa of the Veneto Region - Camposampiero Hospital (Azienda ULSS 6 Euganea), Padova, Italy ; OPHTARA - AP-HP, Hôpital Necker-Enfants Malades, Paris, France ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Medical University of Vienna, Dept of Ophthalmology, Vienna, Austria

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss

Professional(s) : Francesco Testa, Francesca Simonelli

Center(s) : AOU Università degli Studi della Campania Luigi Vanvitelli, Napoli, Italy

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

A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss

Professional(s) : Francesco Testa, Francesca Simonelli

Center(s) : AOU Università degli Studi della Campania Luigi Vanvitelli, Napoli, Italy

Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia

Professional(s) : Catherine Vignal-Clermont, Isabelle MEUNIER

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

Working group(s) : Neuro-Ophthalmology Rare Diseases (WG2)

Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber hereditary optic neuropathy

Professional(s) : José-Alain Sahel, Catherine Vignal-Clermont

Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France ; Fondation Adolphe de Rothschild, Paris, France

Working group(s) : Neuro-Ophthalmology Rare Diseases (WG2)

Predictors of Final Visual Outcome in Patients With Leber Hereditary Optic Neuropathy Treated With Lenadogene Nolparvovec Gene Therapy

Professional(s) : Catherine Vignal-Clermont, José-Alain Sahel

Center(s) : Fondation Adolphe de Rothschild, Paris, France ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France

Working group(s) : Neuro-Ophthalmology Rare Diseases (WG2)

Genetic analysis of participants with foveal hypoplasia

Professional(s) : Yannick Lemer

Center(s) : Fondation Adolphe de Rothschild, Paris, France

A NOVEL RLBP1 GENE MUTATION ASSOCIATED WITH RETINAL FLECKS

Center(s) : Fondation Adolphe de Rothschild, Paris, France

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

Applications of artificial intelligence to inherited retinal diseases: A systematic review

Center(s) : Fondation Adolphe de Rothschild, Paris, France

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

COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management

Professional(s) : Hélène Dollfus, Giacomo Maria Bacci

Center(s) : CARGO, Hôpitaux Universitaires de Strasbourg, France ; AOU Careggi - AOU Meyer Consortium, Firenze, Italy