Clinical characteristics and molecular genetic analysis of a cohort of Chinese patients with choroideremia
Retina Nov 12, 2020
Han X, ; Wu, S, et al. - This study was sought to present the clinical and molecular genetic characteristics of a large cohort of Chinese patients with choroideremia (CHM). Researchers included 48 Chinese participants from 35 families with a clinical diagnosis of CHM who harbored sequence variants in the CHM gene. They conducted comprehensive clinical evaluations and molecular genetic analysis of the CHM gene. This research reported for the first time the clinical and molecular genetic characteristics of a large cohort of Chinese patients with CHM. The data from best-corrected visual acuity best and visual field displayed that compared with western patients, the impairment of visual function in CHM might be more severe in Chinese patients.
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