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

ABSTRACT:

Background

Wilson disease (WD) and retinitis pigmentosa (RP) are common genetic disorders in clinical practice, however, the concurrence of WD and RP has never been reported before. WD occurs due to mutations that cause copper metabolic abnormalities; in turn, change in copper metabolism has been suggested to be related with RP. Here, we report the first case of concurrent WD and bilateral RP, and investigate possible pathogenesis to illuminate whether the two genetic disorders are causality or coincidence.

Case presentation

The patient was a 43-year-old Chinese female diagnosed with WD 12 years ago. She had suffered from night blindness since childhood and faced diminution of bilateral vision within 10 years, for which she was referred to our Eye Center during hospitalizati

SUBMITTER: Ye Z 

PROVIDER: S-EPMC9098211 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature