Yvan Arsenijevic, Ning Chang, Olivier Mercey, Younes El Fersioui, Hanna Koskiniemi-Kuendig, Caroline Joubert, Alexis-Pierre Bemelmans, Carlo Rivolta, Eyal Banin, Dror Sharon, Paul Guichard, Virginie Hamel, Corinne Kostic
For 15 years, gene therapy has been viewed as a beacon of hope for inherited retinal diseases. Many preclinical investigations have centered around vectors with maximal gene expression capabilities, yet despite efficient gene transfer, minimal physiological improvements have been observed in various ciliopathies. Retinitis pigmentosa-type 28 (RP28) is the consequence of bi-allelic null mutations in the FAM161A, an essential protein for the structure of the photoreceptor connecting cilium (CC). In its absence, cilia become disorganized, leading to outer segment collapses and vision impairment...
March 19, 2024: EMBO Molecular Medicine