An observational study in Congenital Aniridia, sponsored by Assistance Publique - Hôpitaux de Paris. Recruiting at 1 site in France. Per ClinicalTrials.gov, last updated 2026-06-02.
Sponsored by Assistance Publique - Hôpitaux de Paris · Observational
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.
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 :
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.
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.
23 studies on the registry are indexed under Aniridia; 8 are open to participants now.
This study's planned enrollment of 100 is close to the median of 100 across 13 observational studies indexed under Aniridia.
Browse Aniridia studies →Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,505 studies on the registry; 1,006 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients followed in Necker Enfants Malades hospital, the referral center in France for congenital aniridia.
Exclusion Criteria:
- 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.
Any patient ≥ 18 years old with congenital aniridia, able to respond independently to a questionnaire and patients under 18 years old with congenital aniridia, whose parents can respond for their child.
Other: Survey
Survey developed by ophthalmologists from the Ophthalmology Department of the Necker-Enfants Malades Hospital, fill out only once by patients with congenital aniridia in order to identify eye and systemic manifestations in congenital aniridia and to determine the patients' knowledge of their own disease.
Ocular and systemic manifestations in congenital aniridia
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.
Time frame: 24 months
Patient's autonomy
Descriptive analysis of the patient's answers and data from the patient's medical file to determine the impact of the disease on patient's autonomy. Questions in the survey concerning patient's autonomy will be compared to the data collected in the medical file. For instance: help with activities of daily living, computer/phone use, lifestyle, outdoor and indoor travel, etc.
Time frame: 24 months
Patients knowledge
Descriptive analysis of the patient's answers and data from the patient's medical file to determine how well patients know their disease and potential complications. Questions in the survey concerning the etiology, complications and evolution of the disease will be compared with the data collected in the medical file in order to determine the degree of knowledge of the patients of the disease.
Time frame: 24 months
Factors influencing patient knowledge
To determine the influence of factors such as age, sex, origin and profession on patients' knowledge of their disease according to survey answers.
Time frame: 24 months
Parental knowledge
Descriptive analysis of the parents' answers and data from the patient's medical file to determine parents' knowledge of their child's disease and potential complications. For patients \< 18 years old, the parents' answers of the questions in the survey concerning the etiology, complications and evolution of the disease will be compared with the data collected in the medical file.
Time frame: 24 months
Plan to share: No
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Assistance Publique - Hôpitaux de Paris