Ontology highlight
ABSTRACT:
SUBMITTER: Skorczyk-Werner A
PROVIDER: S-EPMC6291982 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Skorczyk-Werner Anna A Wawrocka Anna A Kochalska Natalia N Krawczynski Maciej Robert MR
Orphanet journal of rare diseases 20181212 1
<h4>Background</h4>Choroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected. The symptoms include night blindness in childhood, progressive peripheral vision loss and total blindness in the late stages. The disease is caused by mutations in the CHM gene encoding Rab Escort Protein 1 (REP-1). The aim of the study was to identify the molecular basis of choroideremia in five families of Polish origin.<h4>Methods ...[more]