RecruitingNCT05390801

Congenital Aniridia Patient Questionnaire


Sponsor

Assistance Publique - Hôpitaux de Paris

Enrollment

100 participants

Start Date

Jun 8, 2023

Study Type

OBSERVATIONAL

Conditions

Summary

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.


Eligibility

Inclusion Criteria3

  • 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.

Exclusion Criteria1

  • \- 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.

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Interventions

OTHERSurvey

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.


Locations(1)

Hôpital Necker-Enfants Malades

Paris, France

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NCT05390801