Phenotype Variations Caused by Mutations in the<i>RP1L1</i>Gene in a Large Mainly German Cohort

Abstract

OCMD phenotype showed consistent clinical findings including classical microstructural changes on SD-OCT. An important hallmark of RP1L1-related OCMD is the dominant family history with reduced penetrance. Furthermore, novel mutations in association with arRP were identified, outlining the complexity of the protein.