Congenital Aniridia Patient Questionnaire

Congenital Aniridia Patient Questionnaire

Promoteur : Assistance Publique - Hôpitaux de Paris

Titre et résumé fournis en anglais par le registre source, reproduits sans traduction ni interprétation.

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.