Article
Reduction of lipid accumulation rescues Bietti's crystalline dystrophy phenotypes.
Proceedings of the National Academy of Sciences of the United States of America - 10 Apr 2018
Hata Masayuki, Ikeda Hanako O, Iwai Sachiko, Iida Yuto, Gotoh Norimoto, Asaka Isao, Ikeda Kazutaka, Isobe Yosuke, Hori Aya, Nakagawa Saori, Yamato Susumu, Arita Makoto, Yoshimura Nagahisa, Tsujikawa Akitaka
Abstract excerpt
Bietti's crystalline dystrophy (BCD) is an intractable and progressive chorioretinal degenerative disease caused by mutations in the CYP4V2 gene, resulting in blindness in most patients. Although we and others have shown that retinal pigment epithelium (RPE) cells are primarily impaired in patients with BCD, the underlying mechanisms of RPE cell damage are still unclear because we lack access to appropriate...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.