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.
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Ectopiie in the former are thought to be the most important cause of this condition in Europeans. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Lensectomy may be considered in patients with cataracts, in cases where the ectopic lens affects vision significantly. The exact function of these genes has not been clearly established.
Ectopia lentis syndrome Familial ectopia lentis Prevalence: Treatment of the resulting aphakia may be with contact lenses. Health care resources for this disease Expert centres Diagnostic tests 63 Patient organisations 38 Orphan drug s 0.
ectopie du cristallin en inférieur schéma – Docteur Damien Gatinel
Visual acuity, refractive error, and intraocular pressure should be monitored eectopie in affected patients. 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.
Dislocation of the lens can be very mild leading to late diagnosis. Lens dislocation may be progressive. The primary aim of treatment in children is to prevent amblyopia through early correction of refractive errors. A standard approach should be adopted in cases of retinal detachment.
IEL does not involve systemic abnormalities.
Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications. 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 has been preserved during surgery. Professionals Summary information Ectopieepdf Anesthesia guidelines Englishpdf Clinical genetics review English In more severe cases, the anomaly is generally detected earlier with a greater impact on visual acuity.
Surgical intervention may be considered by experienced ophthalmic surgeons.
Ectopie cristallin laxité zonulaire OD – Docteur Damien Gatinel
Management and treatment Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients. Complications include loss of accommodation, secondary glaucoma, and retinal detachment. Summary and related texts. Other findings include congenital abnormalities of the iris, spherophakia, enlarged iris processes leading to abnormal iridocorneal angle, iridodonesis, lens coloboma, refractive errors hyperopia, myopia, astigmatismand sctopie cataract.
Research / Education
edtopie Additional information Further information on this disease Classification s 4 Gene s 2 Clinical signs and symptoms Other website s 2. Ectopia lentis is also a feature of homocystinuria, sulfite oxidase deficiency, Weill-Marchesani syndrome, aniridia, and Knobloch syndrome see these termsas well as pseudoexfoliation. About 90 cases have been reported to date, primarily crjstallin Europeans. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutations in the family have been identified.
Prognosis Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications. Disease definition Isolated ectopia lentis IEL is a rare, wctopie variable, ceistallin disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.
Other search option s Alphabetical list. Diagnostic methods Diagnosis is based on typical ocular findings through ophthalmologic examination and can be confirmed by molecular genetic testing of the causative genes. The documents contained in this web site are presented for information purposes only.
Patients with IEL are found to have dislocation of the lens, which may present at any age, but may be present from birth. They may develop amblyopia. All patients found to have mutations in FBN1 should have regular cardiac examinations.
Detailed information Article for general public Suomipdf. Clinical description Patients with IEL are found to have dislocation of the lens, which may present at any age, but may be present from birth. For all other comments, please send your remarks via contact us.
The prevalence of IEL is not known. 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.
Isolated ectopia lentis IEL is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity. Ocular findings vary widely within families, and between the eyes in an affected individual.
Only comments written in English can be processed. Etiology Dislocation of the lens is the result of a loss of ru fibers. Specialised Social Services Eurordis directory.