National cohort on congenital defects of the eye: natural history, genetic determinisms and improved ocular and extra-ocular outcome prediction for better patient management

{
"level_sex_clusion_I": [
{
"value": "Male",
"concept": {
"vocab": "MeSH",
"vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D008297"
}
},
{
"value": "Female",
"concept": {
"vocab": "MeSH",
"vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D005260"
}
}
],
"level_age_clusion_I": [
{
"value": "Infant, Newborn (birth to 28 days)",
"concept": {
"vocab": "MeSH",
"vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D007231"
}
},
{
"value": "Infant (28 days to 2 years)",
"concept": {
"vocab": "MeSH",
"vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D007223"
}
},
{
"value": "Child, Preschool (2 to 5 years)",
"concept": {
"vocab": "MeSH",
"vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D002675"
}
},
{
"value": "Child (6 to 12 years)",
"concept": {
"vocab": "MeSH",
"vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D002648"
}
},
{
"value": "Young Adult (19 to 24 years)",
"concept": {
"vocab": "MeSH",
"vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D055815"
}
},
{
"value": "Adult (25 to 44 years)",
"concept": {
"vocab": "MeSH",
"vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D000328"
}
},
{
"value": "Middle Aged (45 to 64 years)",
"concept": {
"vocab": "MeSH",
"vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D008875"
}
},
{
"value": "Aged (65 to 79 years)",
"concept": {
"vocab": "MeSH",
"vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D000368"
}
},
{
"value": "Aged, 80 and over (80 years and more)",
"concept": {
"vocab": "MeSH",
"vocabURI": "http:\/\/id.nlm.nih.gov\/mesh\/D000369"
}
}
],
"level_type_clusion_I": [
"People with disabilities"
],
"level_type_clusion_other": "",
"clusion_I": "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). ",
"clusion_E": " 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."
}