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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The prevalence of IEL is not known.

ectopie du cristallin et augmentation de la vergence inférieure – Docteur Damien Gatinel

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Etiology Dislocation of the lens is the result of a loss of zonular fibers. 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. Diagnosis is based on typical ocular findings through ophthalmologic examination and can be confirmed by molecular genetic testing of the causative genes. 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.

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.

Management and treatment Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients. Other findings include congenital abnormalities of the iris, spherophakia, enlarged iris processes leading to abnormal iridocorneal angle, iridodonesis, lens ecyopie, refractive errors hyperopia, myopia, astigmatismand early-onset cataract.

Prognosis Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications.

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

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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Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications. Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients. Dislocation of the lens is the result of a loss etopie zonular fibers. Check this box if you wish to receive a copy of your message. Ectopia lentis syndrome Familial ectopia lentis Prevalence: 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.

About 90 cases have been reported to date, primarily in Europeans.

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

Detailed information Article for general public Ectopieepdf. 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 ectope Marfan syndrome diagnosed according to the Ghent criteria see this term.

Cristwllin Summary information Suomipdf Anesthesia guidelines Englishpdf Clinical genetics review English Summary and related texts. Complications include loss of accommodation, secondary glaucoma, and retinal detachment. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutations in the family have been identified.

Patients with IEL are found to have dislocation of the lens, which may present at any age, but may be present from birth. All patients found to have mutations in FBN1 should have regular cardiac examinations. 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. The documents contained in this web site are presented for information purposes only.

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Additional information Further information on this disease Classification s 4 Gene s 2 Clinical signs and symptoms Other website s 2. Health care resources for this disease Expert cristaklin Diagnostic tests 63 Patient organisations 38 Orphan drug s 0.

For all other comments, please send your remarks via contact us. Ocular findings vary widely within families, and between the eyes in an affected individual.

Treatment of the resulting aphakia may be with contact lenses. 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 exact function of these genes has not been clearly established.

Ectopie cristallin laxité zonulaire OD – Docteur Damien Gatinel

IEL does not involve systemic abnormalities. Specialised Social Services Eurordis directory. Only comments written in English can be processed. Lens dislocation may be progressive. The primary aim of treatment in children is to prevent amblyopia through early correction of refractive errors. Ectopia lentis is also a feature cirstallin homocystinuria, sulfite oxidase deficiency, Weill-Marchesani syndrome, aniridia, and Knobloch syndrome see these termsas well as pseudoexfoliation.

Lensectomy may be considered in patients with cataracts, in cases where the ectopic lens affects vision significantly. A standard approach should be adopted in cases of retinal detachment. Dislocation of the lens can be very mild leading to late diagnosis. Antenatal diagnosis Prenatal diagnosis for pregnancies at increased risk ud 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.