Clinical and Genetic Findings in Patients With PRPF31-associated Retinitis Pigmentosa
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 87
- 试验地点
- 1
- 主要终点
- Fundus Photography (FP)
研究概览
简要总结
Retrospective chart review study to elucidate the genotype and phenotype of patients with PRPF31-associated retinitis pigmentosa and asymptomatic carriers of the respective variant(s)
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •genetically confirmed PRPF31-associated inherited retinal dystrophy or asymptomatic carrier of the respective variant(s)
排除标准
- 未提供
结局指标
主要结局
Fundus Photography (FP)
时间窗: September 2007 - January 2022
characterization of the retina with fundus photography
Optos
时间窗: September 2007 - January 2022
characterization of the retina with ultra-wide-field scanning laser ophthalmoscopy
Best Corrected Visual Acuity (BCVA)
时间窗: September 2007 - January 2022
best corrected visual acuity
Autofluorescence (AF)
时间窗: September 2007 - January 2022
characterization of the retina with fundus autofluorescence
Optical Coherence Tomography (OCT)
时间窗: September 2007 - January 2022
characterization of the retina with optical coherence tomography, e.g. foveal ellipsoid zone loss
Full-Field Electroretinogram (ff-ERG)
时间窗: September 2007 - January 2022
characterization of retinal function with full-field electroretinogram
Visual Field (VF)
时间窗: September 2007 - January 2022
visual field as measured by semi-automated 90° kinetic visual field exam using target III4e
次要结局
未报告次要终点