national cohort on congenital defects of the eye

Conditions: Anophthalmia; Microphthalmia; Aniridia; Anterior Segment Dysgenesis 6, Peters Anomaly Subtype; Anterior Segment Dysgenesis 3, Rieger Subtype

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

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.

Eligibility criteria:
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

Keywords: anophthalmia-microphthalmia-aniridia anterior segment dysgenesis peters anomaly axenfeld-rieger anomaly congenital malformations of the eye neuropsychological evaluation