Congenital Aniridia Patient Questionnaire (Aniridia-Quizz)

Assistance Publique - Hôpitaux de Paris

Status: Enrolling

Conditions: Congenital Aniridia

Treatments: Other: Survey

Study type: Observational

Funder types: Other

Identifiers

NCT05390801

2021-A02363-38 (Other Identifier)

APHP220119

Details and patient eligibility

About

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.

Full description

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.

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.

Enrollment: 100 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• 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 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.

Trial design

100 participants in 1 patient group

Patients

Description:

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.

Treatment:

Other: Survey