Does Recessive Optic Atrophy Due to WFS1 is a Specific Entity Different From Wolfram Syndrome?
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 45
- 主要终点
- Visual acuity at the last visit
研究概览
简要总结
All patients with Wolfram syndrome and recessive optic atrophy due to a mutation of the WFS1 from a single Center were included in a retrospective study. Evolution of the visual acuity since the occurrence of the optic atrophy and its last value, OCT data, genetic data and systemic manifestations were analyzed.
详细描述
Ophthalmological date will be include : farsighted best corrected visual acuity (BCVA) assessment, slit-lamp examination of the anterior segment, Goldman aplanation tonometry, funduscopy, retinography, Goldman manual visual field and optical coherent tomography (OCT). These will include global value of Retinal Nerve Fiber Layer (RNFL) thickness as well as the ganglion cell complex (GCC) thickness.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •WFS1 mutation
排除标准
- •WFS2 mutation
研究组 & 干预措施
wolfram syndrome
Patients according to the EuroWABB criterions of Wolfram syndrome and French national guidelines
干预措施: analyse study (Other)
recessive optic atrophy
patients with an OA due to mutation of gene WFS1, whatever its age of occurrence, without any other clinical manifestation.
干预措施: analyse study (Other)
结局指标
主要结局
Visual acuity at the last visit
时间窗: The last visit will be registered regardless of the time elapsed since the onset of the disease, considered as a baseline
Comparison of visual acuity at the last visual between the 2 groups
次要结局
- Evolution of visual acuity(Measurement at the occurence of the disease considered as baseline and at the last visit)
- Age(At the occurence of the disease considered as baseline)
- Global RNFL thickness(Measurement at the occurence of the disease considered as baseline and at the last visit)
研究者
Christophe Orssaud
MD, Responsible CRMR Ophtara HEGP
European Georges Pompidou Hospital