Journal Reviews

Genetic analysis of choroideremia families

1 February 2016 | | Retina / Uvea / Vitreous | CHM, REP1, choroideremia, rab escort protein 1

Choroideremia (CHM) is a rare X linked recessive chorioretinal dystrophy. Symptoms include nyctalopia and progressive peripheral field loss. Female carriers may have mild symptoms. Choroideremia is known to be caused by a mutation in the CHM gene. A multicentre human...