Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa.
Jin Ha KimJung Woo HanEun Woo ChoiJi Hong BangHee Jeong ShinMi Ae JangJong Young LeeJeong Nam ChoiHun Soo ChangTae Kwann ParkPublished in: Journal of Korean medical science (2022)
mutation was identified in five (5.3%) by WES. Choroideremia should be considered as a differential diagnosis of RP. WES would be useful for identifying the causes of hereditary retinal disease.