Detailed clinical characterisation, unique features and natural history of autosomal recessive <i>RDH12</i>-associated retinal degeneration

Abstract

This study includes the largest collection of phenotypic data from children with <i>RDH12</i>-associated EOSRD and provides a comprehensive description of the timeline of vision loss in this severe, early-onset condition. These findings will help identify patients with <i>RDH12</i>-associated retinal degeneration and will inform future design of therapeutic trials.