Une souche du Vallon de St-Imier (Suisse), manifestant par recessive de malformations oculaires multiples (ectopie du cristallin, kératocône. Anomalie primitive, d’origine congénitale, de situation du cristallin pouvant s’ observer dans le syndrome de Marfan. [D’après MEDEC, , p. Pietruschka G, Priess G: Zur Hereditat des Marfan- und des WeillMarchesani Stadlin W, Klein D: Ectopie congénitale du cristallin avec spherophaquie et.
|Published (Last):||20 October 2011|
|PDF File Size:||15.10 Mb|
|ePub File Size:||18.21 Mb|
|Price:||Free* [*Free Regsitration Required]|
Treatment of the resulting aphakia may be with criztallin lenses. Diagnostic methods Diagnosis is based on typical ocular findings through ophthalmologic examination and can be confirmed by molecular genetic testing of the causative genes.
Research / Education
About 90 cases have been reported to date, primarily in Europeans. For all other comments, please send your remarks via contact us. All patients found to have mutations in FBN1 should have regular cardiac examinations.
Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications. Prognosis Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications.
Ectopie cristallin laxité zonulaire OD – Docteur Damien Gatinel
Diagnosis is based on typical ocular findings through ophthalmologic examination and can be confirmed by molecular genetic testing of the causative genes. IEL does not involve systemic abnormalities. Health care resources for this disease Expert centres Diagnostic tests 63 Patient organisations 38 Orphan drug s 0. Ectopia lentis is also a feature of homocystinuria, sulfite oxidase deficiency, Weill-Marchesani syndrome, aniridia, and Knobloch syndrome see these termsas well as pseudoexfoliation.
Surgical intervention may be considered by experienced ophthalmic surgeons. Patients with IEL by definition do not have associated systemic abnormalities, although cardiac and skeletal examinations should be performed to help exclude Marfan syndrome diagnosed according to the Ghent criteria see this term. Other search option s Alphabetical list. Professionals Summary information Suomipdf Anesthesia guidelines Englishpdf Clinical genetics review English The exact function of these genes has not been clearly established.
Detailed information Article for general ru Suomipdf. In more severe cases, the anomaly is generally detected earlier with a greater impact on visual acuity.
Y a-t-il un traitement chirurgical inoffensif de l’ectopie du cristallin?
Antenatal diagnosis Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutations in the family have been identified. Dislocation of the lens can be very mild leading to late diagnosis. Only comments written in English can be processed.
Ectopia lentis syndrome Familial ectopia lentis Prevalence: Prenatal diagnosis for ectopoe at increased risk is possible if the disease-causing mutations in the family ectoipe been identified. Specialised Social Services Eurordis directory. Isolated ectopia lentis IEL is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Alternatively, an intraocular lens IOL may be inserted in the anterior chamber, and sutured or glued into the posterior chamber or into the capsule, if it cristaallin been preserved during surgery.
Check this box if you wish to receive a copy of your message. Dislocation of the lens is the result of a loss of zonular fibers. The crstallin aim of treatment in children is to prevent amblyopia through early correction of refractive errors.
They may develop amblyopia. Ocular findings vary widely within families, and between the eyes in an affected individual.
Orphanet: Ectopie du cristallin isolee
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. The documents contained in this web site are presented for information purposes only. Lensectomy may be considered in patients with cataracts, in cases where the ectopic lens affects vision significantly.
A standard fristallin should be adopted in cases of retinal detachment.
Patients with IEL are found to have dislocation of the lens, which may present at any age, but may be present from birth. Summary and related texts. Complications include loss of accommodation, secondary glaucoma, and retinal detachment. Lens dislocation may be progressive.