questionsmedicales.fr
Malformations et maladies congénitales, héréditaires et néonatales
Malformations
Malformations oculaires
Malformations oculaires : Questions médicales fréquentes
Diagnostic
5
Anomalies oculaires
Diagnostic médical
Imagerie par résonance magnétique
Examen ophtalmologique
Antécédents familiaux
Génétique
Échographie
Malformations congénitales
Examen ophtalmologique
Anomalies oculaires
Symptômes
5
Troubles de la vision
Strabisme
Douleur oculaire
Anomalies oculaires
Anomalies oculaires
Asymptomatique
Anomalies oculaires
Signes cliniques
Prévention
5
Prévention
Soins prénatals
Génétique
Antécédents familiaux
Vaccination
Infections congénitales
Substances nocives
Grossesse
Examens prénataux
Prévention
Traitements
5
Chirurgie oculaire
Thérapie visuelle
Chirurgie oculaire
Anomalies oculaires
Lunettes correctrices
Vision
Traitement médical
Symptômes
Suivi médical
Chirurgie oculaire
Complications
5
Complications
Troubles psychologiques
Anomalies congénitales
Syndromes génétiques
Qualité de vie
Anomalies oculaires
Problèmes psychologiques
Estime de soi
Complications post-chirurgicales
Chirurgie oculaire
Facteurs de risque
5
Facteurs de risque
Infections congénitales
Âge maternel
Malformations congénitales
Maladies chroniques
Diabète
Toxines environnementales
Exposition
Carences nutritionnelles
Acide folique
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"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer les malformations oculaires ?",
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"@type": "Answer",
"text": "Des tests comme l'IRM, la tomographie et des examens de la vue sont utilisés."
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"@type": "Question",
"name": "Les antécédents familiaux influencent-ils le diagnostic ?",
"position": 3,
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"@type": "Question",
"name": "Comment les malformations oculaires affectent-elles la vision ?",
"position": 8,
"acceptedAnswer": {
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"text": "Elles peuvent entraîner une vision floue, une sensibilité à la lumière ou une cécité."
}
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"@type": "Question",
"name": "Les malformations oculaires peuvent-elles être asymptomatiques ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines malformations peuvent ne pas présenter de symptômes visibles au début."
}
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{
"@type": "Question",
"name": "Y a-t-il des signes visibles de malformations oculaires ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des signes comme des yeux de taille inégale ou des anomalies de la forme peuvent être visibles."
}
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{
"@type": "Question",
"name": "Peut-on prévenir les malformations oculaires ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines malformations peuvent être évitées par des soins prénatals appropriés et une nutrition adéquate."
}
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{
"@type": "Question",
"name": "Quel rôle joue la génétique dans la prévention ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "La connaissance des antécédents familiaux peut aider à évaluer le risque et à prendre des mesures préventives."
}
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{
"@type": "Question",
"name": "Les vaccinations peuvent-elles prévenir les malformations oculaires ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines infections évitables par vaccination peuvent réduire le risque de malformations."
}
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{
"@type": "Question",
"name": "L'évitement de substances nocives est-il important ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, éviter l'alcool, le tabac et d'autres substances nocives pendant la grossesse est crucial."
}
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"@type": "Question",
"name": "Les examens prénataux aident-ils à prévenir les malformations ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des examens réguliers peuvent détecter des problèmes potentiels et permettre une intervention précoce."
}
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"@type": "Question",
"name": "Quels traitements sont disponibles pour les malformations oculaires ?",
"position": 16,
"acceptedAnswer": {
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"text": "Les traitements incluent la chirurgie, les lunettes correctrices et la thérapie visuelle."
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{
"@type": "Question",
"name": "La chirurgie est-elle toujours nécessaire ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, la chirurgie n'est pas toujours nécessaire, cela dépend de la gravité de la malformation."
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"@type": "Question",
"name": "Les lunettes peuvent-elles corriger les malformations oculaires ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles peuvent aider à corriger certains problèmes de vision associés aux malformations."
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"@type": "Question",
"name": "Y a-t-il des traitements médicaux pour ces malformations ?",
"position": 19,
"acceptedAnswer": {
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"text": "Des traitements médicaux peuvent être utilisés pour gérer les symptômes, mais pas pour corriger la malformation."
}
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"@type": "Question",
"name": "Quel suivi est nécessaire après un traitement chirurgical ?",
"position": 20,
"acceptedAnswer": {
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"text": "Un suivi régulier est essentiel pour surveiller la guérison et l'évolution de la vision."
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"@type": "Question",
"name": "Quelles complications peuvent survenir avec les malformations oculaires ?",
"position": 21,
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"text": "Les complications incluent des problèmes de vision, des infections et des troubles psychologiques."
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"@type": "Question",
"name": "Les malformations oculaires augmentent-elles le risque d'autres maladies ?",
"position": 22,
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"text": "Oui, elles peuvent être associées à d'autres anomalies congénitales et syndromes génétiques."
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"@type": "Question",
"name": "Comment les malformations oculaires affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
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"text": "Elles peuvent réduire la qualité de vie en limitant les activités quotidiennes et sociales."
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"@type": "Question",
"name": "Les malformations oculaires peuvent-elles entraîner des problèmes psychologiques ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les enfants peuvent développer des problèmes d'estime de soi et d'anxiété liés à leur apparence."
}
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{
"@type": "Question",
"name": "Y a-t-il des risques de complications post-chirurgicales ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des infections ou des complications liées à la guérison peuvent survenir après une chirurgie."
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"@type": "Question",
"name": "Quels sont les facteurs de risque des malformations oculaires ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, des infections pendant la grossesse et des substances nocives."
}
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{
"@type": "Question",
"name": "L'âge maternel influence-t-il le risque de malformations ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un âge maternel avancé est associé à un risque accru de malformations congénitales."
}
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"@type": "Question",
"name": "Les maladies chroniques de la mère augmentent-elles le risque ?",
"position": 28,
"acceptedAnswer": {
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"text": "Oui, des maladies comme le diabète ou l'épilepsie peuvent augmenter le risque de malformations."
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"name": "L'exposition à des toxines environnementales est-elle un facteur ?",
"position": 29,
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"text": "Oui, l'exposition à des toxines comme le plomb ou les pesticides peut augmenter le risque."
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"@type": "Question",
"name": "Les carences nutritionnelles influencent-elles le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des carences en acide folique et autres nutriments essentiels peuvent augmenter le risque."
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 19/04/2026
Contenu vérifié selon les dernières recommandations médicales
4 publications dans cette catégorie
Affiliations :
Visual Neurosciences and Ocular Motility Laboratory, Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA.
Publications dans "Malformations oculaires" :
3 publications dans cette catégorie
Affiliations :
Department of Neurology, Neurology Service, Cleveland VA Medical Center, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH, 44110, USA. aasefshaikh@gmail.com.
Publications dans "Malformations oculaires" :
3 publications dans cette catégorie
Affiliations :
Department of Ophthalmology and Visual Science, Tokyo Medical and Dental University, Tokyo, Japan.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Ataxia Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, 100 Cambridge St, Suite 2000, Boston, 02114, MA, United States. cstephen@mgh.harvard.edu.
Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. cstephen@mgh.harvard.edu.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Ataxia Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, 100 Cambridge St, Suite 2000, Boston, 02114, MA, United States. jschmahmann@mgh.harvard.edu.
Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. jschmahmann@mgh.harvard.edu.
Cognitive Behavioral Neurology Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. jschmahmann@mgh.harvard.edu.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, Seoul National University College of Medicine, Seoul, Korea
Dizziness Center, Clinical Neuroscience Center, and Department of Neurology, Seoul National University Bundang Hospital, Seongnam, Korea
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, Shanghai Changzheng Hospital, Navy Military Medical University, Shanghai 200003, China.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Health Clinic Center for Enze Precision Medicine, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Taizhou, China.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Baylor Genetics Laboratory, Houston, TX, USA.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology and Centre of Clinical Neuroscience, Charles University, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic. petr.dusek@vfn.cz.
Department of Radiology, Charles University, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic. petr.dusek@vfn.cz.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology and Centre of Clinical Neuroscience, Charles University, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Department of Circuit Theory, Faculty of Electrical Engineering, Czech Technical University, Prague, Czech Republic.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology and Centre of Clinical Neuroscience, Charles University, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Visual Neurosciences and Ocular Motility Laboratory, Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA. fatemaghasia@gmail.com.
Daroff-Del'Osso Ocular Motility Laboratory, Cleveland VA Medical Center, Cleveland, OH, USA. fatemaghasia@gmail.com.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
SENSE Research Unit, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Shanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, PR China.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Department of Psychology, University of Utah, Salt Lake City, UT, USA.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Department of Ophthalmology and Visual Science, Tokyo Medical and Dental University, Tokyo, Japan.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Department of Ophthalmology and Visual Science, Tokyo Medical and Dental University, Tokyo, Japan.
Publications dans "Malformations oculaires" :
2 publications dans cette catégorie
Affiliations :
Department of Ophthalmology and Visual Science, Tokyo Medical and Dental University, Tokyo, Japan.
Publications dans "Malformations oculaires" :
SOX2 pathogenic variants, though rare, constitute the most commonly known genetic cause of clinical anophthalmia and microphthalmia. However, patients without major ocular malformation, but with multi...
The extracellular matrix is a complex network of proteins and other molecules that are essential for the support, integrity, and structure of cells and tissues within the human body. The genes...
Microophthalmos or 'dwarf eye' is characterized by an axial length 2 standard deviation less than age-matched controls. It is classified into nanophthalmos, relative anterior microphthalmos, and poste...
A 56-year-old female presented with bilateral small eyes, high hypermetropia, shallow anterior chamber depth, increased lens thickness, mid-peripheral retinal flecks, and macular edema. She also had h...
This case report is unique as it reports an association of Nanophthalmos with Optic Disc pit, with an associated angle closure glaucoma in the same eye, an association which has never been previously ...
Cat eye syndrome (CES) is a rare congenital disease frequently caused by a partial tetrasomy of the proximal long (q) arm of chromosome 22, due to a small supernumerary marker chromosome (sSMC). CES p...
We analyzed clinical and genetic data of a new patient with CES together with 27 previously reported ones with a confirmed genomic gain in the PubMed database between 2012 and 2023....
We reported a boy with CES carrying a 22q11.1-q11.21 duplication of 1.76 Mb tetrasomy (16888900_18644241, hg19) who presented currently rare or unreported clinical findings such as congenital aural at...
The phenotypic features in CES are highly variable. Our findings expand the symptom spectrum of CES and lay the foundation for better delineating the clinical phenotype, molecular cytogenetic features...
The oculo-facio-cardio-dental syndrome (OFCD) is an ultra-rare multiple congenital anomaly. This report describes clinical findings emphasising dental phenotype in five, molecularly confirmed, female ...
Dental examinations were carried out. An orthopantomogram was taken in three patients, and all patients' intraoral cavities and teeth were photographed. Exome sequencing was performed in both probands...
The OFCD syndrome has a unique dental phenotype and dentists should be aware of signs of this ultra-rare genetic disorder. All patients with congenital cataracts and dental abnormalities, including th...
Introduction Dry eye is an ocular surface disorder caused by increased evaporation, decreased tear production, or mixed form. Tears are secreted by the lacrimal gland after lacrimal nerve stimulation ...
This study aimed to determine the incidence of bilateral macular holes (MHs), and to investigate the incidence and characteristics of retinal abnormalities in the fellow eyes, using high-definition op...
Medical records from 724 consecutive patients diagnosed with full-thickness MHs, who underwent surgery at Fujita Health University Hospital from May 2015 to March 2022, were retrospectively reviewed. ...
The mean age of the patients was 65.9±9.0 years. There were 292 males (44.4%) and 366 females (55.6%). There were 39 fellow eyes with MHs (5.9%), 77 with ERMs (11.7%), 32 with VMTS (4.9%) and 11 with ...
Vitreoretinal interface abnormalities, such as MHs, ERMs, VMTS and LMHs, are more common in the fellow eyes of patients with MHs than in the healthy population. The fellow eyes of patients with MHs sh...
Coats' disease is an idiopathic retinal vascular disorder, known to usually occur unilaterally; however, recent studies have highlighted vascular abnormalities in the fellow unaffected eyes. This retr...
Until now, ultrasound examination of the fetal eyes has not played an important role in prenatal diagnosis. National and international guidelines are generally confined to documentation of the presenc...
This review delineates the ocular motor disturbances across a spectrum of neurodegenerative disorders, including Alzheimer's Disease (AD) and related disorders (ADRD), Parkinson's Disease (PD), atypic...