Ontology highlight
ABSTRACT:
SUBMITTER: Bae K
PROVIDER: S-EPMC5500744 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Annals of laboratory medicine 20170901 5
Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands had progressive loss of visual field with characteristic chorioretinal atrophy, while electroretinography demonstrated nearly extinguished cone and rod responses compatible with choroideremia. Sanger ...[more]