Congenital Aniridia Patient Questionnaire
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 100
- 试验地点
- 2
- 主要终点
- Ocular and systemic manifestations in congenital aniridia
研究概览
简要总结
Congenital aniridia is a pan-ocular genetic disease characterized by a partial or complete absence of the iris, hence its name. The prevalence ranges from 1 / 40,000 to 1 / 96,000 births, but it may be underestimated. This condition combines several types of eye damage and could associate systemic manifestations, with a variable phenotype and genotype.
This study aims to identify eye and systemic manifestations in congenital aniridia and to determine the patients' knowledge of their own disease through a survey prepared by ophthalmologists from the Ophthalmology Department of Necker-Enfants Malades Hospital, reference center in France for this pathology. The patient fills it out only once.
详细描述
Congenital aniridia is a pan-ocular genetic characterized by partial or complete absence of the iris, hence its name. The prevalence ranges from 1 / 40,000 to 1 / 96,000 births, but it may be underestimated. This condition combines several types of eye damage :
- Partial or complete absence of iris, iris abnormalities
- Glaucoma
- Cataract
- Corneal opacifications with neovascularization
- Foveal hypoplasia with nystagmus
- Hypoplasia of the optic nerve The signs of the disease vary from one individual to another, even within the same family. Iris abnormalities and foveolar hypoplasia are the most constant signs. Affected patients have a highly compromised visual prognosis in adulthood, and are very often considered visually impaired with criteria for legal blindness.
Congenital aniridia can also be associated with several severe systemic manifestations, including syndromic aniridia (WAGR syndrome and Gillespie syndrome).
The major gene responsible for autosomal dominant forms of congenital aniridia is PAIRED BOX GENE 6 (PAX6) (MIM#607108) with over 500 pathogenic variants reported to date.
Congenital aniridia is therefore a rare, pan-ocular disease associating systemic manifestations, with a variable phenotype and genotype.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Any patient ≥ 18 years old with congenital aniridia and able to respond independently to the study survey,
- •or patients under 18 years old with congenital aniridia, whose parents can answer the study survey,
- •adult patients or holders of parental authority and minor patients informed and not opposed to participation in the study.
排除标准
- •- Patients with neurological disorders preventing them from answering the survey, except in the case of minor patients, if the parents can answer for the patient.
结局指标
主要结局
Ocular and systemic manifestations in congenital aniridia
时间窗: 24 months
To identify eye and systemic manifestations in congenital aniridia through a survey prepared by ophthalmologists. The answers of the survey will be compared with data from the patient's medical file.
次要结局
- Patient's autonomy(24 months)
- Parental knowledge(24 months)
- Patients knowledge(24 months)
- Factors influencing patient knowledge(24 months)