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

IEL does not involve systemic abnormalities. Diagnostic methods Diagnosis is based on typical crisstallin findings through ophthalmologic examination and can be confirmed by molecular genetic testing of the causative genes. A standard approach should be adopted in cases of retinal detachment. Treatment of the resulting aphakia may be with contact lenses.

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

Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutations in the family have been identified. The exact function of these genes has not been clearly established.

Complications include loss of accommodation, xu glaucoma, and retinal detachment. Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications. Specialised Social Services Eurordis directory. Patients with IEL are found to have dislocation of the lens, which may present at any age, but may be present from birth. Ectopia lentis syndrome Familial ectopia lentis Prevalence: For all other comments, please send your remarks via contact us.

The prevalence of IEL is not known. Etiology Dislocation of the lens is the result of a loss of zonular fibers. About 90 cases have been reported to date, primarily in Europeans.

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The documents contained in this web site are presented for information purposes only. The primary aim of treatment in children is to prevent amblyopia through early correction of refractive errors. Dislocation of the lens can be very mild leading to late diagnosis. Mutations in the former are thought to be the most important cause of this condition in Europeans. Summary and related texts.

Lensectomy may be considered in patients with cataracts, in cases where the ectopic lens affects vision significantly. Other search option s Alphabetical list. Differential crietallin 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 ectoie see this term. Detailed edtopie Article for general public Suomipdf.

Coupe OCT ectopie et subluxation du cristallin – Docteur Damien Gatinel

They may develop amblyopia. 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. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Only comments written in English can be processed.

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. Lens dislocation may be progressive. Disease definition Isolated ectopia lentis IEL is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.

Check this box if you wish to receive a copy of your message. Management and treatment Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients.

Dislocation of the lens is the result of a loss of zonular fibers. 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. All patients found to have mutations in Cristallni should have regular cardiac examinations. Surgical intervention may be considered by experienced ophthalmic surgeons.

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

Health care resources for this disease Expert centres Diagnostic tests 63 Patient organisations 38 Orphan drug s 0. Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients. Professionals Summary information Suomipdf Anesthesia guidelines Englishpdf Clinical genetics review English Additional information Further information on this disease Classification s 4 Gene s 2 Clinical signs and symptoms Other website s 2.

ectopie du cristallin en inférieur schéma – Docteur Damien Gatinel

Antenatal diagnosis Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutations in the family have been identified. The material is in no way intended to replace crisrallin medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Ectopia lentis is also a feature of homocystinuria, sulfite oxidase deficiency, Weill-Marchesani syndrome, aniridia, and Knobloch syndrome see these termsas well as pseudoexfoliation.

Other findings include congenital abnormalities of the iris, spherophakia, enlarged iris processes leading to abnormal iridocorneal angle, iridodonesis, lens coloboma, refractive errors hyperopia, myopia, astigmatism wctopie, and early-onset cataract.