PDF(Pubmed)
Abstract：
UNASSIGNED: To delineate the natural history of visual function parameters over time in individuals with Bietti crystalline dystrophy.
UNASSIGNED: This was a single-center retrospective longitudinal cohort study. Participants (n = 29) with a clinical diagnosis of Bietti crystalline dystrophy who harbored two alleles of disease-causing variants of the cytochrome P450 family 4 subfamily V member 2 gene (CYP4V2) were enrolled. Best-corrected visual acuity (BCVA), visual field (VF), and full-field ERG (ffERG) at baseline and their changes during the follow-up period were evaluated. Annual progression rates were calculated using three methods.
UNASSIGNED: The mean age at the initial visit was 34.2 ± 7.5 years, with 5.9 ± 3.1 years follow-up. The annual progression rate from the longitudinal analysis using averaged individual progression rates was 0.079 logMAR units for BCVA, 1.14 dB for mean defect (MD) value of VF, and -18.06 µV and -5.45 µV for the b-wave amplitudes of scotopic 3.0 ERG and photopic 3.0 ERG, respectively. Mixed-model linear regression revealed annual progression rates of 0.068 logMAR units, 0.86 dB, -13.29 µV, and -3.75 µV, respectively. Cross-sectional progression rates from visual function versus age at baseline were 0.011 logMAR units, 0.47 dB, -1.85 µV, and -1.07 µV, respectively, which were significantly slower than those from the longitudinal data. Interocular symmetries for the MD values of VF and ffERG were good.
UNASSIGNED: Annual BCVA, VF, and ffERG progression rates were rapid, emphasizing the need for regular follow-up and early intervention. The progression rate cannot be inferred accurately from cross-sectional data from patients of different ages.
UNASSIGNED: This was a single-center retrospective longitudinal cohort study. Participants (n = 29) with a clinical diagnosis of Bietti crystalline dystrophy who harbored two alleles of disease-causing variants of the cytochrome P450 family 4 subfamily V member 2 gene (CYP4V2) were enrolled. Best-corrected visual acuity (BCVA), visual field (VF), and full-field ERG (ffERG) at baseline and their changes during the follow-up period were evaluated. Annual progression rates were calculated using three methods.
UNASSIGNED: The mean age at the initial visit was 34.2 ± 7.5 years, with 5.9 ± 3.1 years follow-up. The annual progression rate from the longitudinal analysis using averaged individual progression rates was 0.079 logMAR units for BCVA, 1.14 dB for mean defect (MD) value of VF, and -18.06 µV and -5.45 µV for the b-wave amplitudes of scotopic 3.0 ERG and photopic 3.0 ERG, respectively. Mixed-model linear regression revealed annual progression rates of 0.068 logMAR units, 0.86 dB, -13.29 µV, and -3.75 µV, respectively. Cross-sectional progression rates from visual function versus age at baseline were 0.011 logMAR units, 0.47 dB, -1.85 µV, and -1.07 µV, respectively, which were significantly slower than those from the longitudinal data. Interocular symmetries for the MD values of VF and ffERG were good.
UNASSIGNED: Annual BCVA, VF, and ffERG progression rates were rapid, emphasizing the need for regular follow-up and early intervention. The progression rate cannot be inferred accurately from cross-sectional data from patients of different ages.
摘要：
■描绘Bietti晶体营养不良患者视觉功能参数随时间的自然史。
■这是一项单中心回顾性纵向队列研究。招募了具有Bietti晶体营养不良临床诊断的参与者（n=29），这些参与者具有细胞色素P450家族4亚家族V成员2基因（CYP4V2）的两个致病变体等位基因。最佳矫正视力（BCVA），视野(VF),评估基线时的全场ERG（ffERG）及其在随访期间的变化。使用三种方法计算年度进展率。
■初次就诊时的平均年龄为34.2±7.5岁，随访5.9±3.1年。使用平均个体进展率的纵向分析得出，BCVA的年进展率为0.079logMAR单位，VF的平均缺陷（MD）值1.14dB，暗视3.0ERG和明视3.0ERG的b波振幅为-18.06µV和-5.45µV，分别。混合模型线性回归显示，年进展率为0.068logMAR单位，0.86dB,-13.29µV,和-3.75µV，分别。视觉功能与基线年龄的横断面进展率为0.011logMAR单位，0.47dB,-1.85µV,和-1.07µV，分别,明显慢于纵向数据。VF和ffERG的MD值的眼间对称性良好。
■年度BCVA，VF,ffERG进展速度很快，强调需要定期随访和早期干预。从不同年龄患者的横断面数据无法准确推断进展率。
■这是一项单中心回顾性纵向队列研究。招募了具有Bietti晶体营养不良临床诊断的参与者（n=29），这些参与者具有细胞色素P450家族4亚家族V成员2基因（CYP4V2）的两个致病变体等位基因。最佳矫正视力（BCVA），视野(VF),评估基线时的全场ERG（ffERG）及其在随访期间的变化。使用三种方法计算年度进展率。
■初次就诊时的平均年龄为34.2±7.5岁，随访5.9±3.1年。使用平均个体进展率的纵向分析得出，BCVA的年进展率为0.079logMAR单位，VF的平均缺陷（MD）值1.14dB，暗视3.0ERG和明视3.0ERG的b波振幅为-18.06µV和-5.45µV，分别。混合模型线性回归显示，年进展率为0.068logMAR单位，0.86dB,-13.29µV,和-3.75µV，分别。视觉功能与基线年龄的横断面进展率为0.011logMAR单位，0.47dB,-1.85µV,和-1.07µV，分别,明显慢于纵向数据。VF和ffERG的MD值的眼间对称性良好。
■年度BCVA，VF,ffERG进展速度很快，强调需要定期随访和早期干预。从不同年龄患者的横断面数据无法准确推断进展率。
