Ontology highlight
ABSTRACT:
SUBMITTER: Vasireddy V
PROVIDER: S-EPMC3646845 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Vasireddy Vidyullatha V Mills Jason A JA Gaddameedi Rajashekhar R Basner-Tschakarjan Etiena E Kohnke Monika M Black Aaron D AD Alexandrov Krill K Zhou Shangzhen S Maguire Albert M AM Chung Daniel C DC Mac Helen H Sullivan Lisa L Gadue Paul P Bennicelli Jeannette L JL French Deborah L DL Bennett Jean J
PloS one 20130507 5
Choroideremia (CHM) is an X- linked retinal degeneration that is symptomatic in the 1(st) or 2(nd) decade of life causing nyctalopia and loss of peripheral vision. The disease progresses through mid-life, when most patients become blind. CHM is a favorable target for gene augmentation therapy, as the disease is due to loss of function of a protein necessary for retinal cell health, Rab Escort Protein 1 (REP1).The CHM cDNA can be packaged in recombinant adeno-associated virus (rAAV), which has an ...[more]