ECTOPIE DU CRISTALLIN PDF

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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About 90 cases have been reported to date, primarily in Europeans. The exact function of these genes has not been clearly established. Patients with IEL are found to have dislocation of the lens, which may present at any age, but may be present from birth. Specialised Social Services Eurordis directory. Summary and related texts. Surgical intervention may be considered by experienced ophthalmic surgeons.

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. The documents contained in this web site are ceistallin for edtopie purposes only. Treatment of the resulting aphakia may be with contact lenses. 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 early-onset cataract.

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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. Etopie standard approach should be adopted in cases of retinal detachment. Differential diagnosis 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.

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All patients found to have mutations in FBN1 should have regular cardiac examinations. 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.

The prevalence of IEL is not known. Some patients are also found to have displacement of the pupils, usually in the opposite direction to lens displacement known as ectopia lentis et pupillae. Evtopie lentis syndrome Familial ectopia lentis Prevalence: Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutations in the family have been identified. Management and treatment Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients.

Diagnostic methods Diagnosis is based on typical ocular findings through ophthalmologic examination and can be confirmed by molecular genetic testing of the causative genes.

Dislocation of the lens can be very mild leading to late diagnosis. 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.

IEL does not involve systemic abnormalities. For all other comments, please send your remarks via contact us.

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Health care resources for this disease Expert centres Diagnostic tests 63 Patient organisations 38 Orphan drug s 0. Visual prognosis depends on the degree of lens dislocation, the age of cristalljn, age of treatment and complications. Patients with IEL by definition do not have associated systemic abnormalities, although cardiac crisatllin skeletal examinations should be performed to help exclude Marfan syndrome diagnosed according to the Ghent criteria see this term.

Additional information Further information on this disease Classification s 4 Gene s 2 Clinical signs and symptoms Other website s 2.

Y a-t-il un traitement chirurgical inoffensif de l’ectopie du cristallin?

The primary aim of treatment in children is to prevent amblyopia through early correction of refractive etopie. Professionals Summary information Suomipdf Anesthesia guidelines Englishpdf Clinical genetics review English Etiology Dislocation of critsallin lens is the result of a loss of zonular fibers.

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Lens dislocation may be progressive. Prognosis Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications. They may develop amblyopia. Complications include loss of accommodation, secondary glaucoma, and retinal detachment. Disease definition Isolated ectopia lentis IEL is criztallin rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

Dislocation of the lens is the result of a loss of zonular fibers.

Ectopia lentis is also a feature of homocystinuria, sulfite oxidase deficiency, Weill-Marchesani syndrome, aniridia, and Knobloch syndrome see these termsas well as pseudoexfoliation. Check this box if you wish to receive a copy of your message. Detailed information Article for general public Suomipdf. Diagnosis is based on typical ocular findings through ophthalmologic examination and can be confirmed by molecular genetic testing of the causative genes.

Antenatal diagnosis Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutations in the family have been identified. Mutations in the former are thought to be the most important cause of this condition in Europeans.

Other search option s Alphabetical list. Lensectomy may be considered in patients with cataracts, in cases where the ectopic lens affects vision significantly.

Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients. Only comments written in English can be processed.

In more severe cases, the anomaly is generally detected earlier with a greater impact on visual acuity.