Ophthalmologic involvement in Japanese siblings with chorea-acanthocytosis caused by a novel chorein mutation

摘要

Chorea-acanthocytosis (ChAc, MIM 200150) is an autosomalrecessive disorder associated with mutations in the VPS13A gene,which encodes the membrane protein chorein [1,2]. Although theVPS13A gene is expressed ubiquitously, defects in this gene affectonly the nervous system and erythrocytes, resulting in choreicmovements with mental impairment and spiky erythrocyte deformation.Dysfunction of other organs remains unclear.The VPS13A gene has 73 exons.