Ontology highlight
ABSTRACT:
SUBMITTER: Kurata K
PROVIDER: S-EPMC6470860 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Kurata Kentaro K Hosono Katsuhiro K Hayashi Takaaki T Mizobuchi Kei K Katagiri Satoshi S Miyamichi Daisuke D Nishina Sachiko S Sato Miho M Azuma Noriyuki N Nakano Tadashi T Hotta Yoshihiro Y
International journal of molecular sciences 20190326 6
X-linked retinitis pigmentosa (XLRP) is a type of severe retinal dystrophy, and female carriers of XLRP demonstrate markedly variable clinical severity. In this study, we aimed to elucidate the clinical findings of male patients with and female carriers of XLRP in a Japanese cohort and demonstrate the genetic contribution. Twelve unrelated families (13 male patients, 15 female carriers) harboring pathogenic mutations in <i>RPGR</i> or <i>RP2</i> were included, and comprehensive ophthalmic examin ...[more]