CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up.
Mays TalibCaroline Van CauwenberghJulie De ZaeytijdDavid Van WynsbergheElfride De BaereCamiel J F BoonBart Peter LeroyPublished in: The British journal of ophthalmology (2021)
Bi-allelic CRB1 mutations result in a range of progressive retinal disorders, most of which are generalised, with characteristically early macular involvement. Visual function and retinal structure analysis indicates a window for potential intervention with gene therapy before the fourth decade of life in RP and the first decade in LCA.