Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Key Laboratory of Ocular Fundus Diseases, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Retina. 2020 Nov;40(11):2240-2253. doi: 10.1097/IAE.0000000000002743.
To describe the clinical and molecular genetic characteristics of a large cohort of Chinese patients with choroideremia (CHM).
Forty-eight Chinese participants from 35 families with a clinical diagnosis of CHM who harbored sequence variants in the CHM gene were enrolled. Comprehensive clinical evaluations and molecular genetic analysis of the CHM gene were performed.
The median age of the 48 patients was 31.5 years (range, 5-78 years). There were 30 different sequence variants detected in 35 families; of which, 13 sequence variants were novel. The mean (±SD) best-corrected visual acuity best in logarithm of the minimum angle of resolution equivalents was 0.71 (±0.87) (range, 0.00-2.80) or approximately 20/100 in Snellen visual acuity. A significant correlation was revealed between best-corrected visual acuity best and age (P < 0.001). The trend in the change in the best-corrected visual acuity over age showed that relatively good vision remained until 20 years old. The patterns of fundus photography and fundus autofluorescence finding demonstrated that residual retinal pigment epithelium areas significantly declined in patients at the age of 20 years or older. The results of visual field and full-field electroretinography showed that these measures might be of limited value for evaluating the condition of the late stage of CHM in Chinese patients.
This study described for the first time the clinical and molecular genetic characteristics of a large cohort of Chinese patients with CHM. The findings from best-corrected visual acuity best and visual field showed that the impairment of visual function in CHM might be more severe in Chinese patients than in western patients.
描述一大群中国脉络膜视网膜变性（CHM）患者的临床和分子遗传特征。
从 35 个 CHM 基因序列变异的 CHM 临床诊断家系中招募了 48 名中国参与者。对 CHM 基因进行了全面的临床评估和分子遗传学分析。
48 名患者的中位年龄为 31.5 岁（范围，5-78 岁）。在 35 个家庭中检测到 30 个不同的序列变异；其中，13 个序列变异是新的。35 个家系中检测到 30 个不同的序列变异；其中，13 个序列变异是新的。最佳矫正视力对数最小角分辨率等价物的平均值（±标准差）为 0.71（±0.87）（范围，0.00-2.80）或相当于 Snellen 视力的 20/100。最佳矫正视力最佳与年龄之间存在显著相关性（P<0.001）。最佳矫正视力随年龄变化的趋势表明，视力良好的情况一直持续到 20 岁左右。眼底照相和眼底自发荧光检查结果表明，20 岁及以上患者的残余视网膜色素上皮区域显著减少。视野和全视野视网膜电图的结果表明，这些措施对于评估中国患者 CHM 晚期的病情可能价值有限。
本研究首次描述了一大群中国 CHM 患者的临床和分子遗传特征。最佳矫正视力和视野的结果表明，中国患者的视觉功能损害可能比西方患者更严重。
