Akiko Yoshida

A novel PRPF31 variant associated with autosomal dominant retinitis pigmentosa in Japanese families

BACKGROUND: PRPF31-associated inherited retinal dystrophy is an autosomal dominant form of retinitis pigmentosa (RP), typically caused by haploinsufficiency. Although affected individuals generally exhibit early-onset nyctalopia and progressive visual field loss, the clinical and...

Perioperative transient myoclonic state with asterixis in an elderly patient: a case report

Abstract Background Transient myoclonic state with asterixis (TMA) is characterized by repetitive, short-lived myoclonus without impaired consciousness disturbance. Herein, we report a case of an elderly man who developed TMA perioperatively. Case presentation A man in his 80 s w...