Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 208
- 试验地点
- 1
- 主要终点
- Visual acuity
研究概览
简要总结
The pathophysiology of the most common corneal endothelial dystrophies (Fuchs' Corneal Endothelial Dystrophy (FECD)) is beginning to be dismembered. One of the most common genetic anomalies is a triplet repetition in one of the introns of the Transcription Factor 4 (TCF4) gene located on chromosome 18. However, the number of repetitions varies greatly from one patient to another.
详细描述
The intent of that study was to analyse if there is a relationship between the number of triplet repetitions and the rate of disease progression. This knowledge would make it possible to personalize the care.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •For patient group:
- •>18 years old
- •affiliated with or entitled to a social security scheme
- •having received informed information about the study and having co-signed, with the investigator, a consent to participate in the study
- •with an Fuchs Endothelial Corneal Dystrophy (FECD) certified by slit lamp examination
- •For control group:
- •>18 years old
- •affiliated with or entitled to a social security scheme
- •having received informed information about the study and having co-signed, with the investigator, a consent to participate in the study
排除标准
- •For patient group:
- •Patients under guardianship or curatorship
- •Patient planning to move within the year
- •With no evidence of ophthalmological pathology requiring intraocular surgery within one year of the first visit
- •Better initial corrected visual acuity <1/10
- •Not having had intraocular surgery in the 6 months prior to inclusion (after 6 months, the endothelium is considered stabilized)
- •Not having any other progressive pathology responsible for a decrease in visual acuity (significant cataract Lens Opacities Classification System (LOCS) >2 ; progressive retinal pathology, in particular age-related macular degeneration, unstabilized macular edema)
- •For control group:
- •Patients under guardianship or curatorship
- •with an Fuchs Endothelial Corneal Dystrophy (FECD) certified by slit lamp examination
结局指标
主要结局
Visual acuity
时间窗: Year: 0 and 1
Correlation between visual acuity measured before noon eye by eye of ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale) results and number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene.
次要结局
- Mutation rs613872(Year: 0 and 1)
- Refraction with the auto-refractor tonometry(Year: 0 and 1)
- CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene(Year: 0 and 1)
- Corneal thickness in Optical Coherence Tomography (OCT)(Year: 0 and 1)
- Reflectivity results measure by Optical Coherence Tomography (OCT)(Year: 0 and 1)
- ETDRS scale (Early Treatment Diabetic Retinopathy Study scale) in a controlled glare situation(Year: 0 and 1)
- interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography(Year: 0 and 1)
- Other mutation(Year: 0 and 1)