{"doc_desc":{"title":"National cohort on congenital defects of the eye: natural history, genetic determinisms and improved ocular and extra-ocular outcome prediction for better patient management","idno":"FRESH-PEF73377-en","producers":[{"name":"Sonia GUEGUEN","affiliation":""}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF73377-en","IDno":{"metadata_no":[{"agency":"FReSH","code":"FRESH-PEF73377"},{"agency":"N\u00b0Gestionnaire INSERM ","code":"C15-47"},{"agency":"ClinicalTrials.gov ID","code":"NCT05954403"},{"agency":"R\u00e9f\u00e9rence CEEI","code":"15-249"},{"agency":"N\u00b0CNIL","code":"916093"}],"metadata_yes":[{"code":"FReSH","agency":"FReSH"}]},"title":"National cohort on congenital defects of the eye: natural history, genetic determinisms and improved ocular and extra-ocular outcome prediction for better patient management","alternate_title":"RaDiCo-AC-OEIL"},"study_authorization":{"agency":[{"name":"CNIL"},{"name":"Other"},{"name":"Other"}]},"authoring_entity":[{"name":"Nicolas;CHASSAING","firstname":"Nicolas","lastname":"CHASSAING","type":"investigator","extlink":[{"title":"ORCID","uri":"0000-0003-0234-8820","role":"pi id"},{"title":"IdRef","uri":"094599289","role":"pi id"},{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"RNSR","uri":"199221775H","role":"labo id"}],"email":"chassaing.n@chu-toulouse.fr","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","PILabo":"French National Institute for Health and Medical Research (Inserm) \/ Inserm U 1056","isContact":false}],"oth_id":[{"name":"Sonia;GUEGUEN","firstname":"Sonia","lastname":"GUEGUEN","type":"contributor","isContact":false,"extlink":[{"title":"ORCID","uri":"0000-0003-4730-2949","role":"team member id"},{"title":"IdRef","uri":"070367418","role":"team member id"}]},{"name":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","type":"affiliation","teamMemberLabo":"U933, RaDiCo: Rare Disease Cohorts","extlink":[{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"RNSR","uri":"200918538R","role":"labo id"}]},{"name":"Rare disease healthcare network: SENSGENE (rare sensory diseases); patient associations: Microphtalmie France, Retina France and Geniris.","type":"collaboration"}],"production_statement":{"prod_place":"Epidemiology France Portal (PEF)","producers":[{"name":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","role":"sponsor","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"sponsor id"},{"title":"SIREN","uri":"180036048","role":"sponsor id"}]}],"funding_agencies":[{"name":"AGENCE NATIONALE DE LA RECHERCHE (ANR)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00rbzpz17"},{"title":"SIREN","uri":"130002504"}]},{"name":"MINISTERE DE L\u2019ENSEIGNEMENT SUPERIEUR, DE LA RECHERCHE ET DE L\u2019ESPACE","extlink":[{"title":"SIREN","uri":"110044013"},{"title":"ROR","uri":"https:\/\/ror.org\/03sjk9a61"}]}]},"distribution_statement":{"contact":[{"name":"Khalil;BRAMKI","lastname":"BRAMKI","firstname":"Khalil","type":"contact","email":"ac-oeil@radico.fr","affiliationName":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","contactPointLabo":"U933, RaDiCo: Rare Disease Cohorts","extlink":[{"title":"SIREN","uri":"180036048","role":"organisation id"},{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261","role":"organisation id"},{"title":"RNSR","uri":"200918538R","role":"labo id"}]}]},"study_info":{"keywords":[{"keyword":"Ophthalmic diseases"},{"keyword":"Rare diseases"},{"keyword":"Quality of life"},{"keyword":"cohort"},{"keyword":"anterior segment dysgenesis"},{"keyword":"anophtalmia"},{"keyword":"aniridia"},{"keyword":"eye anomalies"},{"keyword":"genetics"}],"topics":[{"topic":"Medical genetics","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/8e2d297f-5880-4d7a-969d-79026aa0779c"},{"title":"MeSH","uri":"D005823"}],"vocab":"health theme"},{"topic":"Neurology","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/c4793dfe-e80e-49dd-9fcc-a1a742de1b25 | http:\/\/data.europa.eu\/8mn\/euroscivoc\/00a5c4f4-b7ee-41a4-bcdf-3a02e6be1660"},{"title":"MeSH","uri":"D009462"}],"vocab":"health theme"},{"topic":"Ophthalmology","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/621ef1ce-2ebd-43d9-a6c7-ecd962d27269"},{"title":"MeSH","uri":"D009885"}],"vocab":"health theme"},{"topic":"Paediatrics","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/bf8aaaac-ddee-41cd-bb8a-c5a63de3fcbd"},{"title":"MeSH","uri":"D010372"}],"vocab":"health theme"},{"topic":"Aniridia","vocab":"cim-11","extLink":[{"title":"CIM-11","uri":"http:\/\/id.who.int\/icd\/entity\/970699895"}]},{"topic":"Clinical anophthalmos","vocab":"cim-11","extLink":[{"title":"CIM-11","uri":"http:\/\/id.who.int\/icd\/entity\/614784200"}]},{"topic":"Anterior segment dysgenesis","vocab":"cim-11","extLink":[{"title":"CIM-11","uri":"http:\/\/id.who.int\/icd\/entity\/1182282997"}]},{"topic":"Microphthalmos","vocab":"cim-11","extLink":[{"title":"CIM-11","uri":"http:\/\/id.who.int\/icd\/entity\/1342802999"}]},{"topic":"Socio-demographic and economic determinants","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants: Education level","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants: Age","vocab":"health determinant"},{"topic":"Environmental determinants","vocab":"health determinant"},{"topic":"Environmental determinants: Other","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Biological determinants: Sex","vocab":"health determinant"},{"topic":"Environmental Toxic Exposure During Pregnancy","vocab":"other environmental determinant"}],"purpose":"The main objective of the cohort is to improve our understanding of the long-term outcomes of individuals with congenital ocular developmental defects. In particular, the study focuses on the evolution of visual function and neurological development in order to better understand the lifelong consequences of these rare diseases.\r\n\r\nThe study also aims to identify factors associated with poorer clinical outcomes. It investigates the influence of the type of ocular defect, whether the condition affects one or both eyes, and the presence of associated congenital malformations. These findings will contribute to improving diagnosis, refining prognosis, and supporting more personalized patient management.\r\n\r\nIn addition, the cohort evaluates the impact of ocular developmental defects on the quality of life of patients and their families. A better understanding of the daily burden of these conditions will help healthcare professionals address patients' and families' needs more effectively throughout the care pathway.\r\n\r\nFinally, the cohort aims to advance knowledge of the genetic causes of these disorders. It seeks to better understand the relationships between genetic abnormalities and clinical manifestations, to characterize the phenotypic spectrum associated with each disease-causing gene, and to identify new genes involved in ocular developmental defects. These findings are expected to improve genetic diagnosis and contribute to the development of more personalized medicine.","abstract":"The RaDiCo-AC-\u0152IL cohort is a national study focused on congenital anomalies of eye development, including microphthalmia, anophthalmia, aniridia, and anterior segment anomalies. These rare conditions are present at birth and can lead to varying degrees of visual impairment. They are also often associated with other conditions, including neurodevelopmental abnormalities or other malformations, the consequences of which remain poorly understood.\r\nThe goal of this cohort study is to better understand the natural course of these diseases in order to improve patient care. Researchers are studying changes in visual function and neurological development over time to identify factors associated with a more or less favorable prognosis. This knowledge will help doctors better inform families, tailor patient follow-up, and provide earlier, personalized treatment recommendations.\r\nThe study also examines the impact of these conditions on the quality of life of patients and their loved ones. Questionnaires are administered throughout the follow-up period to better understand the effects of the disease on daily life, schooling, work, and family life.\r\nThe cohort also helps improve our understanding of the genetic causes of these diseases. The data collected will enable researchers to study the links between genetic abnormalities and various clinical manifestations, in order to better understand why the disease can present differently from one patient to another and to identify the factors responsible for this variability.\r\nThis observational study includes children and adults with a congenital eye abnormality. The information collected comes from patients\u2019 routine medical follow-up, supplemented by quality-of-life questionnaires and, when available, genetic data. All data are collected in pseudonymized form and analyzed securely to ensure participants\u2019 confidentiality.\r\nBy collecting this data over a long period of time, the RaDiCo-AC-\u0152IL cohort helps improve our understanding of these rare diseases, promote earlier diagnosis, optimize patient care, and pave the way for the development of increasingly personalized medicine.","coll_dates":[{"start":"2017-07-11","end":"2037-07-11"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"['Auvergne Rh\u00f4ne-Alpes','Bourgogne Franche-Comt\u00e9','Bretagne','Centre-Val de Loire','Grand Est','Hauts-de-France','Ile-de-France','La R\u00e9union','Normandie','Nouvelle-Aquitaine','Occitanie','Pays de la Loire','Provence - Alpes - C\u00f4te d'Azur']","analysis_unit":"Individus","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D005260\"\n            },\n            \"value\": \"Female\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D008297\"\n            },\n            \"value\": \"Male\"\n        }\n    ],\n    \"level_age_clusion_I\": [\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D007231\"\n            },\n            \"value\": \"Infant, Newborn (birth to 28 days)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D007223\"\n            },\n            \"value\": \"Infant (28 days to 2 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D002675\"\n            },\n            \"value\": \"Child, Preschool (2 to 5 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D002648\"\n            },\n            \"value\": \"Child (6 to 12 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000293\"\n            },\n            \"value\": \"Adolescent (13 to 18 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D055815\"\n            },\n            \"value\": \"Young Adult (19 to 24 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000328\"\n            },\n            \"value\": \"Adult (25 to 44 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D008875\"\n            },\n            \"value\": \"Middle Aged (45 to 64 years)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000368\"\n            },\n            \"value\": \"Aged (65 to 79 years)\"\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients population\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"People with one of the following congenital eye anomalies can be included in the study:\\r\\n\u2022 Anophthalmia;\\r\\n\u2022 Microphthalmia;\\r\\n\u2022 Aniridia;\\r\\n\u2022 Anterior segment dysgenesis.\\r\\nParticipants (or their legal representative, where applicable) must have received clear information on the objectives and expected benefits of the study (improved knowledge and patient care), and have given their informed consent to take part in the study.\\r\\nParticipants must be affiliated with a health insurance scheme (Assurance Maladie).\\r\\nPatients living abroad may also be included through the French investigating centres, provided that they agree to cover all medical costs associated with their follow-up.\\r\\n\",\n    \"clusion_E\": \"People cannot be included in the study if they meet any of the following exclusion criteria:\\r\\nHaving a congenital eye anomaly other than anophthalmia, microphthalmia, aniridia or anterior segment dysgenesis;\\r\\nBeing unable to give informed consent to take part in the study (or, where applicable, if their legal representative refuses or is unable to give consent);\\r\\nFor patients required to be affiliated with the French health insurance scheme (Assurance Maladie), not having such affiliation;\\r\\nFor patients living abroad, not agreeing to cover the medical costs associated with their follow-up.\\r\\n\"\n}","data_kind":"['Clinical data','Paraclinical data (non-biological)','Paraclinical data (non-biological) : Imaging','Paraclinical data (non-biological) : Anthropometry','Biological data','Socio-demographic data','Environmental \/ exposure data','Genetic \/ genomic data','Participant-reported health data']","quality_statement":{"standards":[{"name":"['HPO, ICD10, Snomed CT, Orpha Codes and ORDO, Drug dictionary (DCIs)']","committee":"Steering Committee: Nicolas CHASSAING, Patrick CALVAS, Nadia BAHI-BUISSON, Audrey BOISRON, Eric Moser, H\u00e9l\u00e8ne MARIN CUDRAZ, and RaDiCo.\r\nScientific Committee: Nicolas CHASSAING, Patrick CALVAS, Nadia BAHI-BUISSON, Audrey BOISRON, Serge LE PICARD, Gaelle JOUANJAN, Vincent SOLER, Didier LACOMBE, Sylvie ODENT, Sarra MOUGEL, Xavier ZANLONGHI, Catherine VINCENT DELORME, and RaDiCo.","governance":""}],"other_quality_statement":"['Data quality is ensured under the Data Management Plan and the Data Validation Plan, with continuous data management. Data collected in the eCRF undergo consistency and completeness checks, in particular through automatic control rules and a query system. Checks are carried out to identify data that are missing, inconsistent or require clarification from the investigating centres. Corrections are made after verification with the centres concerned, in accordance with research data management procedures. Data management process flowcharts are also used to document the data processing and validation circuits, the various quality control points and the responsibilities of those involved at each stage.']"}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"The primary outcome is based on the assessment of patients' visual abilities and neurological development.\r\nVisual function is assessed using corrected visual acuity, converted to the logMAR scale and measured separately for the right and left eye. For each patient, the visual acuity of the better eye and of the worse eye is also considered, as well as the category of visual impairment according to the World Health Organization classification.\r\nNeurological development is assessed using the age at which sitting, walking and first words were acquired, and the presence of a delay in at least one of these milestones. A composite neurodevelopmental delay variable is used. The presence of epilepsy or seizures is also taken into account.\r\nThese measures describe the visual and neurological impact of congenital eye developmental anomalies and allow the study of factors associated with a more or less favourable prognosis.\r\n"},{"activity_type":"secondary evaluation","activity_description":"Secondary evaluation criteria include:\r\n\u2022  Characteristics of the eye condition: diagnostic subgroup (aniridia, microphthalmia, Peters\u2019 anomaly, Axenfeld-Rieger anomaly, other anterior segment dysgenesis, or other diagnosis), number of affected eyes, and whether the condition is unilateral or bilateral;\r\n\u2022  Associated ophthalmological abnormalities, including abnormalities of the cornea, the anterior chamber, and the lens, as well as other associated ocular malformations, evaluated separately for each eye;\r\n\u2022  Available ocular biometric parameters, including axial length and corneal diameter;\r\n\u2022  Extraocular abnormalities: presence of an associated systemic malformation or dysmorphism, and whether the condition is isolated or part of a syndrome;\r\n\u2022  Age at diagnosis and whether the diagnosis was made prenatally or postnatally, as well as diagnostic delay;\r\n\u2022  Surgical treatment: eye surgery performed, number and type of procedures, age at the time of the first surgery, and time between birth and the first surgery;\r\n\u2022  Genetic characteristics: genetic tests performed, presence or absence of an identified mutation, the gene involved, and the type of documented genetic abnormality;\r\n\u2022  An analysis of factors associated with visual acuity, diagnostic delay, and the first eye surgery. The explanatory variables considered include, in particular, age at enrollment, diagnostic subgroup, laterality, biometric parameters, associated malformations, and the presence of an identified mutation;\r\n\u2022  Available data on school enrollment and socio-professional integration, particularly regarding the level of education at inclusion."}]},"method":{"data_collection":{"time_method":"Other","frequency":"It depends on the patient\u2019s age at enrollment. If the patient is enrolled before age 6, samples are collected at enrollment, between ages 6 and 7, and between ages 9 and 11. If the patient is enrolled between ages 6 and 8, samples are collected at enrollment and between ages 9 and 11. If the patient is enrolled at age 8 or older, samples are collected at enrollment.","sampling_procedure":"['{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"TotalUniverseCompleteEnumeration\"},\"value\":\"Complete enumeration (including consecutive recruitment)\"}']","sample_frame":{"frame_unit":{"unit_type":"['Through organizations (health services or institutions, schools, businesses, etc.)']"}},"coll_mode":["{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"Transcription\"},\"value\":\"Converting or copying information into a structured record\"}","{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"Interview\"},\"value\":\"Interview with the participant (including clinical)\"}","{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"MeasurementsAndTests\"},\"value\":\"Measurements and tests\"}","{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"MeasurementsAndTests.Physical\"},\"value\":\"Physical\/biological measurements (blood pressure, weight, biochemistry, imaging, etc.)\"}","{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"MeasurementsAndTests.Psychological\"},\"value\":\"Psychological tests\/clinical scales (depression, cognition, quality of life, etc.)\"}","{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"Observation\"},\"value\":\"Observation (clinical or behavioural)\"}","{\"concept\":{\"vocab\":\"CESSDA\",\"vocabURI\":\"SelfAdministeredQuestionnaire\"},\"value\":\"Self-administered questionnaire\"}"],"research_instrument":"Data access is restricted to specific research projects (SRP). Any data access request is submitted by a user and assessed by the cohort's relevant bodies, including a scientific review by the Scientific Committee and a feasibility, regulatory and legal analysis by the teams concerned. Once approved by the relevant bodies, the terms of data access and use are set out in a specific agreement. Results from the projects may be disseminated as scientific publications, presentations or reports, in compliance with confidentiality and the regulations applicable to health data.","sources":[{"sourceCitation":{"titlStmt":{"titl":""},"holdings":"","notes":{"subject":"source purpose","value":""}},"srcOrig":[]}],"target_sample_size":"< 500 individuals","response_rate":"277 au 01\/10\/2026"},"method_notes":"Observational Study","study_class":"Ongoing study","notes":[{"subject":"research type","values":["Observational Study"]},{"subject":"observational study method","values":["Cohort study"]},{"subject":"follow-up","values":["Monitoring by participant visit to the investigation center"]}]},"data_access":{"dataset_availability":{"access_place":"The data is hosted in France, within the secure France Cohortes data repository, by a hosting provider certified as a Health Data Host (HDS). It is collected and centralized in a secure eCRF, accessible only to duly authorized individuals in accordance with current security and access management procedures.","complete":"The available data files consist of data collected as part of the cohort and selected based on the purpose of the access request. Certain collected data may not be included in the files provided if they are subject to regulatory, ethical, or personal data protection restrictions.","status":"{\"extLink\":{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"},\"value\":\"Restricted access\"}","notes":""},"dataset_use":{"restrictions":"According to the Cohort Resource Access Policy, requests must be submitted in the form of a research project synopsis to ac-oeil@radico.fr (to be reviewed within one month by the RaDiCo-AC-ACOEIL Cohort Scientific Committee). Requests for access to RaDiCo-AC-ACOEIL data (aggregated or individual) will be reviewed by the Scientific Committee following the submission of a Specific Research Project (SRP) abstract, as defined in the Resource Access Charter.","conditions":"According to the cohort's Resource Access Charter, requests must be submitted as a research project synopsis to ac-oeil@radico.fr (reviewed within one month by the RaDiCo-AC-OEIL Scientific Committee). Requests for access to RaDiCo-AC-OEIL data (aggregated or individual) will be reviewed by the Scientific Committee following submission of a Specific Research Project (SRP) summary, as defined in the Resource Access Charter.","conf_dec":[{"txt":"Access to information regarding the cohort is contingent upon compliance with the confidentiality obligations applicable to the data, documents, and information made available. Authorized users agree to use this information solely for the approved purposes and not to disclose it to unauthorized third parties. These obligations may be formalized in specific agreements or contracts governing access to the data."}],"spec_perm":[{"txt":"","required":"No"}],"contact":[{"name":"Khalil;BRAMKI","firstname":"Khalil","lastname":"BRAMKI","email":"ac-oeil@radico.fr"}],"deposit_req":"Before publication, articles must be submitted to the relevant Project committee for review. Users who wish to publish must take into account all comments made by the relevant committee, provided that such comments are well-founded and not arbitrary. The terms and conditions for publication and dissemination are specified in the PRS Agreement.","cit_req":"Prior to any publication, the PRS Lead\u2014in consultation with the PRS Manager, if applicable\u2014shall determine, by mutual agreement with the relevant project committee and based on each individual\u2019s respective intellectual contributions, the order of authorship and the number of authors from each entity participating in the project. Publications must include at least one author from the sponsor among their authors. Provided that this practice is accepted by the publishers of these scientific publications, RaDiCo will be listed as a co-author of the publication. In the event of refusal by the publisher, the members of the RaDiCo Consortium Agreement will provide the PRS Manager or the PRS Lead with the list of co-authors."}}},"additional":{"versionLang":"en","originLang":"en","lastUpdatedAuto":"23-10-2026","lastUpdatedManual":"23-10-2026","autoTranslation":false,"status":"Published","respValidation":"","isHealthTheme":true,"isContributorPI":false,"addTeamMember":true,"primaryInvestigator":{"isPIContact":false,"piMail":"chassaing.n@chu-toulouse.fr","piAffiliation":{"piLabo":"French National Institute for Health and Medical Research (Inserm) \/ Inserm U 1056"}},"relatedDocument":[],"contactPointLabo":"U933, RaDiCo: Rare Disease Cohorts","obtainedAuthorization":{"otherAuthorizingAgency":["","CEEI",""]},"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Public (France)","Public (France)"],"otherFundingAgentType":["",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":true},"collaborations":{"networkConsortium":true},"theme":{"complementaryInformation":"","RareDiseases":true},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":false,"allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[{"name":"Routine Care","type":"Other","typeOther":"Collection of clinical data from patients as part of their routine care, without any specific risk factors or exposures."}],"cohortLongitudinal":{"recrutementTiming":[]},"otherResearchType":{"otherResearchTypeDetails":""},"inclusionGroups":[],"nrInclusionGroups":false,"collectionProcess":{"collectionModeDetails":"Data are collected as part of the routine medical follow-up of patients included in the cohort. They come from clinical consultations, ophthalmological examinations performed as part of patient care, and medical data available in patients' records. Quality-of-life questionnaires may also be offered to patients to assess the impact of the disease on daily life. The data collected are entered into a dedicated database in pseudonymised and secure form.","collectionModeOther":""},"dataCollection":{"inclusionStrategy":[],"samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"activeFollowUp":{"isActiveFollowUp":true,"followUpModeOther":""},"dataCollectionIntegration":{"isDataIntegration":false},"geographicalCoverage":{"geoDetail":"All French territory via rare disease reference and competence centers"},"dataTypes":{"clinicalDataDetails":"Data on congenital eye developmental anomalies (anophthalmia, microphthalmia, aniridia, anterior segment dysgenesis), patients' clinical characteristics, changes in vision, neurological development, associated malformations and medical follow-up data.","biologicalDataDetails":"For patients agreeing to have such analysis, molecular screening for diagnosis purposes will be performed by the genetic diagnosis laboratory led by the two principal investigators at the CHU (University Hospital) Toulouse. These analyses include the high-throughput sequencing of, to date, 25 genes known to be involved in these pathologies (ALDH1A3, B3GALTL, BCOR, C12ORF57, CYP1B1, FOXC1, FOXE3, MAB21L2, MFRP, OTX2, PAX2, PAX6, PITX2, PITX3, PRSS56, PXDN, RARB, RAX, RCN1, SIX6, SMOC1, SOX2, STRA6, TENM3, VSX2), and possibly more once new genes will be identified. These analyses are performed by Sanger, targeted sequencing (NGS).; Further molecular analysis for research purposes that may be required for identification of new or modulator genes, will be performed by the EA-4555 research laboratory (research laboratory of the two principal investigators). These analyses will be performed by whole exome and whole genome sequencing.","isDataInBiobank":false,"biobankContent":[],"biobankContentOther":"","dataTypeOther":"","paraclinicalDataOther":"","otherLiquidsDetails":""},"variableDictionnary":{"variableDictionnaryAvailable":true,"variableDictionnaryLink":"The data dictionary can be made available as part of an approved data access request, in accordance with the cohort's procedures."},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":false,"mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[""]},"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}