Case Report: The First Reported Concurrence of Wilson Disease and Bilateral Retinitis Pigmentosa

Abstract

We reported the first case of concurrent WD and RP. WES detected two pathogenic gene mutations, <i>ATP7B</i> and <i>CNGA1</i>. Though we cannot completely rule out a causal effect of WD-related abnormal copper metabolism with RP, we speculate that the two gene mutations lead to the coincidence of the two genetic disorders, respectively.