National cohort on congenital defects of the eye: natural history, genetic determinisms and improved ocular and extra-ocular outcome prediction for better patient management FRESH-PEF73377-en Sonia GUEGUEN National cohort on congenital defects of the eye: natural history, genetic determinisms and improved ocular and extra-ocular outcome prediction for better patient management RaDiCo-ACOEIL FRESH-PEF73377-en 73377 FRESH-PEF73377 Nicolas CHASSAING Patrick CALVAS INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) Epidemiology France Portal (PEF) AGENCE NATIONALE DE LA RECHERCHE (ANR) null Nicolas;CHASSAING Patrick;CALVAS Ophthalmic diseases Rare diseases Quality of life Neurology Ophthalmology Paediatrics Structural developmental anomalies of ocular globes Socio-demographic and economic determinants Biological determinants: Genetic predisposition Healthcare system determinants: Use of care Biological determinants Healthcare system determinants Main objective The principal objective of this study is to delineate the long term outcomes of the patients with ocular developmental defects, focusing on visual and neuro-developmental issues. Secondary objectives I) Identification of prognostic factors (such as ocular defects, unilateral or bilateral involvement, extra-ocular malformations) that would be associated with unfavourable visual and/or neurologic outcome. These data will be essential for the formulation of recommendations to enhance diagnosis and patient management. II) Repercussions of the ocular developmental defects on patients and families quality of life. Exploratory objectives Searching for potential genotype/phenotype correlations to unravel - the frequency of implication of each gene in these ocular developmental defects; - the phenotypic spectrum associated with mutations in these genes; - the identification of novel genes involved in these ocular developmental defects. Given genotyping will not be mandatory to participate to the cohort; this objective will involve only the patients who accepted it. null France Individuals People with disabilities Male Female Infant, Newborn (birth to 28 days) Infant (28 days to 2 years) Child, Preschool (2 to 5 years) Child (6 to 12 years) Young Adult (19 to 24 years) Adult (25 to 44 years) Middle Aged (45 to 64 years) Aged (65 to 79 years) Aged, 80 and over (80 years and more) Patients from 0 to 7 years old - Newborns and/or children from birth to 7 years old, affected with the following ocular defects: • anophthalmia, • microphthalmia • aniridia • anterior segment dysgnesis whose parents will have properly evaluated risks (those related to the actual standard of care for these pathologies) and benefits (improvement of knowledge and standard of care) 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. Patients over 8 years old - Children from 8 years old, affected with the following ocular defects : • anophthalmia, • microphthalmia • aniridia • anterior segment dysgenesis whose parents will have properly evaluated risks and benefits of the study, and will be given an informed consent form to participate to the protocol. - Patients affiliated to the "Régime National d’Assurance Maladie" - Inclusion of foreign patients will be possible through the French inclusion centres when they agreed to be charged for all medical fees. Adult Patients - Adults affected with the following ocular defects : • anophthalmia, • microphthalmia • aniridia • anterior segment dysgenesis - Adult patients under guardianship whose guardians will have properly evaluated risks (those related to the actual standard of care for these pathologies) and benefits (improvement of knowledge and standard of care) 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 (those related to the actual standard of care for these pathologies) and benefits (improvement of knowledge and standard of care) 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). - Patients affiliated to the "Régime National d’Assurance Maladie". - 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 (as examination proposed have no interference or adverse effect during pregnancies). Patients with ocular developmental defects other than the ones listed above. - Patient or patients’ parents/tutor not able to approve or declining participation to the protocol. - French patients not affiliated to the "Régime National d’Assurance Maladie" or foreign patients not willing to pay charges of medical services. Clinical data Participant-reported health data Biological data Socio-demographic data HPO ICD10 Snomed CT Orpha Codes and ORDO Drug dictionary (DCIs) Continuous data management; Data Management Plan and Data Validation Plan. Native controls and Query system Health event/morbidity Health event/mortality Quality of life/health perception Others Other Through organizations (health services or institutions schools businesses etc.) [500-1000[ individuals Converting or copying information into a structured record Observational Study Observational Study Morbidity registry 800 Unknown Restricted access Access requests to RaDiCo -AC OEIL data (rough / structured), or to analytic reports will be examined by the scientific committee following submission of a Specific Research Project (SRP) synopsis, as defined in the Resource Access Charter. Must be sent to ac-oeil@radico.fr Access on specific project only