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
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.
No exclusion criteria
Patients from 0 to 7 years old We aim to include most patients born with a developmental ocular defect. Even if most ocular defects are diagnosed during the first months of age, patients could be included in the cohort until 7 years old. Patients over 8 years old: Affected adults and children over 8 years old will not be included in the follow-up subgroup.
Cohort
Other
Not listed
Visual acuity including distance and near vision, completed if necessary by a low vision evaluation with ETDRS scale, will be conducted with refraction under cycloplegia.
An accurate description of the binocular vision by orthoptists
Slit lamp examination and fundus with imaging will be useful to specify the disease.
An ultrasound measurement will evaluate axial length of eyeball.
Ocular defects, unilateral or bilateral involvement
Extraocular malformations
Quality of life questionnaires
Short-Form Health Survey (SF-36) or equivalent adapted for children (SF-10)
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