Autosomal Recessive Bestrophinopathy—Phenotypic Variability, Natural History, and Genotype-Phenotype Correlations
Year: 2025
Type: article
Language: en
Topic: Retinal Development and Disorders
Authors and affiliations:
raw_author_name: Lorenzo Bianco
raw_affiliation_strings: From the Sorbonne Université (L.B., A.A., M.N., A.A., C.C., J.A.S., C.Z., I.A.), INSERM, CNRS, Institut de la Vision, Paris, France; CHNO des Quinze-Vingts (L.B., A.A., A.B., G.M., J.A.S., I.A.), Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC1423, Paris, France; Department of Ophthalmology (L.B., A.A.), IRCCS San Raffaele Scientific Institute, Milan, Italy
raw_author_name: Alessio Antropoli
raw_affiliation_strings: From the Sorbonne Université (L.B., A.A., M.N., A.A., C.C., J.A.S., C.Z., I.A.), INSERM, CNRS, Institut de la Vision, Paris, France; CHNO des Quinze-Vingts (L.B., A.A., A.B., G.M., J.A.S., I.A.), Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC1423, Paris, France; Department of Ophthalmology (L.B., A.A.), IRCCS San Raffaele Scientific Institute, Milan, Italy
raw_author_name: Elise Boulanger-Scemama
raw_affiliation_strings: Fondation Ophtalmologique Adolphe de Rothschild (E.B.S.), Paris, France
raw_author_name: Marco Nassisi
raw_affiliation_strings: From the Sorbonne Université (L.B., A.A., M.N., A.A., C.C., J.A.S., C.Z., I.A.), INSERM, CNRS, Institut de la Vision, Paris, France; Department of Clinical Sciences and Community Health (M.N.), University of Milan, Milan, Italy; Ophthalmological Unit (M.N.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy
raw_author_name: Amine Benadji
raw_affiliation_strings: CHNO des Quinze-Vingts (L.B., A.A., A.B., G.M., J.A.S., I.A.), Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC1423, Paris, France
raw_author_name: Grégoire Mésa
raw_affiliation_strings: CHNO des Quinze-Vingts (L.B., A.A., A.B., G.M., J.A.S., I.A.), Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC1423, Paris, France
raw_author_name: Louise O’Toole
raw_affiliation_strings: Mater Private Hospital, Dublin, Ireland
raw_author_name: Aline Antonio
raw_affiliation_strings: From the Sorbonne Université (L.B., A.A., M.N., A.A., C.C., J.A.S., C.Z., I.A.), INSERM, CNRS, Institut de la Vision, Paris, France
raw_author_name: Christel Condroyer
raw_affiliation_strings: From the Sorbonne Université (L.B., A.A., M.N., A.A., C.C., J.A.S., C.Z., I.A.), INSERM, CNRS, Institut de la Vision, Paris, France
raw_author_name: Camille Andrieu
raw_affiliation_strings: Mater Private Hospital (L.O., C.A.), Dublin, Ireland
raw_author_name: José-Alain Sahel
raw_affiliation_strings: From the Sorbonne Université (L.B., A.A., M.N., A.A., C.C., J.A.S., C.Z., I.A.), INSERM, CNRS, Institut de la Vision, Paris, France; CHNO des Quinze-Vingts (L.B., A.A., A.B., G.M., J.A.S., I.A.), Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC1423, Paris, France; Department of Ophthalmology (J.A.S.), The University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
raw_author_name: Christina Zeitz
raw_affiliation_strings: From the Sorbonne Université (L.B., A.A., M.N., A.A., C.C., J.A.S., C.Z., I.A.), INSERM, CNRS, Institut de la Vision, Paris, France
raw_author_name: Isabelle Audo
raw_affiliation_strings: From the Sorbonne Université (L.B., A.A., M.N., A.A., C.C., J.A.S., C.Z., I.A.), INSERM, CNRS, Institut de la Vision, Paris, France; CHNO des Quinze-Vingts (L.B., A.A., A.B., G.M., J.A.S., I.A.), Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC1423, Paris, France. Electronic address: isabelle.audo@inserm.fr