National Cohort on Congenital Defects of the Eye — RaDiCoACOEIL  

Aniridia Clinical Trial

Official title: National Cohort on Congenital Defects of the Eye: Natural History, Genetic Determinisms and Improved Ocular and Extra-ocular Outcome Prediction for Better Patient Management

Status Recruiting

Clinical Trial Summary

Congenital malformations of the eye comprise various developmental defects including microphthalmia, anophthalmia, aniridia, and anterior segment anomalies (such as Peters and Axenfeld-Rieger anomalies). These malformations are frequently associated with extra-ocular features and intellectual disability. However, little is known about visual outcome, frequency and consequences of extra-ocular features in patients.

The originality of the project will be to include a spectrum of malformation thought to be a phenotypic continuum (anophthalmia, microphthalmia, aniridia, anterior segment dysgnesis). In addition, we aim to conduct a 10 year follow-up of these children, thus allowing determining ocular and neurological outcomes as any other medical event. We should also be able to determine phenotypic factors that would be associated with good or poor visual and neurologic outcomes

Clinical Trial Description

Congenital malformations of the eye include several developmental abnormalities including microphtalmia, aniridia, and anterior segment abnormalities. Microphtalmia is a malformation of the eye that manifests as an eye smaller than normal. In the total absence of visible eyeball is called anophthalmitis. Malformation may concern one or both eyes. Aniridia is characterized by a partial or total absence of the iris. Anterior segment abnormalities include a broad spectrum of malformations affecting the cornea and iris. These are essentially the syndromes of Peters, Rieger and Axenfeld that drive glaucoma or cataract.

These abnormalities are rare and often associated with extra-ocular malformations. Thus, a delay acquisitions may be present, secondary to sensory impairment, or directly related to a brain damage during development, leading to intellectual disability. The visual consequences of these malformations, as well as the frequency of extra-ocular and abnormalities of psychomotor development are still poorly known. Thus, predict the evolution the visual and neurological abilities of a child diagnosed with a congenital the eye will have been made during pregnancy or at birth and propose to these children a protocol well-defined care is proving very difficult at the moment. The aim of this study is to improve knowledge of these diseases by describing the course of visual and neuro-developmental functions.

The study should also:

1. Identify prognostic factors for the visual and neurological evolution of these diseases

2. Assess the impact of these eye defects on the quality of life of patients and their family

3. Search for correlations between the presence of certain genetic mutations and the appearanceocular or neuro-developmental abnormalities.

All these observations should improve the management of these diseases.

The patients involved are children and adults with congenital eye defects.

This will be a retrospective and prospective observational study. Any patient responding to criteria for inclusion and not satisfying the criteria for exclusion, duly informed and having given its consent, may be included in the study by his doctor. ;

Related Conditions & MeSH terms

• Aniridia
• Anophthalmos
• Congenital Abnormalities
• Eye Abnormalities
• Microphthalmos

• NCT number: NCT05954403
• Study type: Observational
• Source: Institut National de la Santé Et de la Recherche Médicale, France
• Contact: Nicolas NC CHASSAING, Dr
• Phone: 0033 5 61 77 90 55
• Email: chassaing.n@chu-toulouse.fr
• Status: Recruiting
• Start date: July 11, 2017
• Completion date: July 2037