Congenital Aniridia Patient Questionnaire
NCT05390801 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100
Last updated 2025-09-15
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.
Conditions
- Congenital Aniridia
Interventions
- 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.
Sponsors & Collaborators
-
URC-CIC Paris Descartes Necker Cochin
collaborator OTHER -
Assistance Publique - Hôpitaux de Paris
lead OTHER
Principal Investigators
-
Alejandra Daruich, MD, PhD · Assistance Publique - Hôpitaux de Paris
-
Dominique Bremond-Gignac, MD, PhD · Assistance Publique - Hôpitaux de Paris
Eligibility
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2023-06-08
- Primary Completion
- 2026-06-08
- Completion
- 2026-06-08
Countries
- France
Study Locations
More Related Trials
-
Global Patient Registry of Inherited Retinal Diseases
NCT05957276 ·Status: ACTIVE_NOT_RECRUITING
-
Birdshot Chorioretinopathy : Prospective Follow-up and Immunogenetic Studies(CO-BIRD)
NCT05153057 ·Status: RECRUITING
-
Clinical and Genetic Studies of Familial Exudative Vitreoretinopathy
NCT00106756 ·Status: COMPLETED
-
Magnetic Resonance Imaging to Study the Normal Eye
NCT00005911 ·Status: COMPLETED
-
Validation and Reliability of Iris Cameras in Mucopolysaccharidoses
NCT05354219 ·Status: UNKNOWN
-
Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.
NCT02970266 ·Status: COMPLETED
-
MRI Versus Ocular UltraSonography for a Non Contact Evaluation of Ocular Layers
NCT05300698 ·Status: RECRUITING
-
Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy
NCT00422721 ·Status: COMPLETED ·Phase: NA
-
Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
NCT07278843 ·Status: RECRUITING
-
Causes of Visual Loss in Retinal Disease
NCT01613963 ·Status: UNKNOWN
-
A Big Data-based Cohort Study for Cataract Patients
NCT05491798 ·Status: RECRUITING
-
Multicenter, Non-interventional Study, Describing Patients With Inherited Retinal Disease (IRD) in France
NCT05122442 ·Status: COMPLETED
-
Establishment of the National Registry for Inherited Retinal Dystrophy in Iran
NCT04131400 ·Status: UNKNOWN
-
Natural History Study of CEP290-Related Retinal Degeneration
NCT03396042 ·Status: COMPLETED
-
Central Serous Chorioretinopathy Registry and Pachychoroid Observation and Natural History Study
NCT05278169 ·Status: UNKNOWN
-
Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65
NCT02714816 ·Status: COMPLETED
-
High Myopia: Extended and Longterm Observation of Pathologic Myopia Patients With the Risk for Developing a Myopic Choroidal Neovascularization (CNV)
NCT03070717 ·Status: COMPLETED
-
Clinical and Genetic Characterization of Individuals With Achromatopsia
NCT01846052 ·Status: COMPLETED
-
Function and Imaging Assessments for G1961E-associated Stargardt Disease
NCT05674058 ·Status: ACTIVE_NOT_RECRUITING
-
Risk of Posterior Staphyloma in Highly Myopic Europeans : From Epidemiology to Anatomy.
NCT06949579 ·Status: RECRUITING ·Phase: NA
-
Rate of Progression in EYS Related Retinal Degeneration
NCT04127006 ·Status: ACTIVE_NOT_RECRUITING
-
Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F
NCT04765345 ·Status: ACTIVE_NOT_RECRUITING
-
Feasibility Study and Preliminary Application Study on Iris OCTA
NCT03631108 ·Status: UNKNOWN
-
Cause of Pigment Dispersion Syndrome
NCT00005919 ·Status: COMPLETED
-
Infectious Causes of Uveitis
NCT00676624 ·Status: COMPLETED