RECRUITINGOBSERVATIONAL

National Cohort on Congenital Defects of the Eye

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

About This Trial

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

Who May Be Eligible (Plain English)

Who May Qualify: - Newborns and/or children from birth to 7 years old, Children from 8 years old affected with the following ocular defects: anophthalmia, microphthalmia, aniridia or anterior segment dysgnesis.whose parents will have properly evaluated risks and benefits of the study and will be given an willing to sign a consent form to participate the protocol. - Patients affiliated to the "Régime National d'Assurance Maladie". Inclusion of foreign patients will be possible through the French inclusion centers when they agreed to be charged for all medical fees. - Adults affected with the following ocular defects: anophthalmia, microphthalmia, aniridia or anterior segment dysgenesis - Adult patients under guardianship whose guardians will have properly evaluated risks and benefits of the study and will be given an willing to sign a consent form to participate the protocol. Indeed, intellectual disability may be associated with the ocular defects and we will need to include these patients in order to evaluate incidence of this event. - Adult patients able to properly evaluate risks and benefits of the study and to give their willing to sign a consent form to participate to the protocol. - Adult parents of an affected child participating to the study and willing to participate to the inheritance study (results of DNA analysis). - Inclusion of foreign patients will be possible through the French inclusion centres when they agreed to be charged for all medical fees. Pregnant women can be included in the study Who Should NOT Join This Trial: - No exclusion criteria Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language

Inclusion Criteria: * Newborns and/or children from birth to 7 years old, Children from 8 years old affected with the following ocular defects: anophthalmia, microphthalmia, aniridia or anterior segment dysgnesis.whose parents will have properly evaluated risks and benefits of the study and will be given an informed consent to participate the protocol. * Patients affiliated to the "Régime National d'Assurance Maladie". Inclusion of foreign patients will be possible through the French inclusion centers when they agreed to be charged for all medical fees. * Adults affected with the following ocular defects: anophthalmia, microphthalmia, aniridia or anterior segment dysgenesis * Adult patients under guardianship whose guardians will have properly evaluated risks and benefits of the study and will be given an informed consent to participate the protocol. Indeed, intellectual disability may be associated with the ocular defects and we will need to include these patients in order to evaluate incidence of this event. * Adult patients able to properly evaluate risks and benefits of the study and to give their informed consent to participate to the protocol. * Adult parents of an affected child participating to the study and willing to participate to the inheritance study (results of DNA analysis). * Inclusion of foreign patients will be possible through the French inclusion centres when they agreed to be charged for all medical fees. Pregnant women can be included in the study Exclusion Criteria: * No exclusion criteria

Locations (1)

RaDiCo-ACOEIL

Paris, Île-de-France Region, France