Genetic analysis of choroideremia families
1 February 2016
| Anjali Gupta
|
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...