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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Etiology Dislocation of the lens is the result of a loss of zonular fibers. Mutations in the former are thought to be the most important cause of this condition in Europeans.

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. Ocular findings vristallin widely within families, and between the eyes in an affected individual. Lens dislocation may be progressive. Prognosis Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications.

The documents contained in this web site are presented for information purposes only. Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients. The exact function of these genes has not been clearly established.

Only comments written in English can be processed. Other search option s Alphabetical list. Professionals Summary information Suomipdf Anesthesia guidelines Englishpdf Clinical genetics review English Ectopia lentis is also a feature of homocystinuria, sulfite oxidase deficiency, Weill-Marchesani syndrome, aniridia, and Knobloch syndrome see these termsas well as pseudoexfoliation.

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

Surgical intervention may be considered by experienced ophthalmic surgeons. For all other comments, please send your remarks via contact duu. Complications include loss of accommodation, secondary glaucoma, and retinal detachment.

Summary and related texts. The primary aim of treatment in children is to prevent amblyopia through early correction of refractive errors.

Alternatively, an intraocular lens IOL may be inserted in the anterior chamber, and cristallkn or glued into the posterior chamber or into the capsule, if it has been preserved during surgery.

Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutations in the family have been identified. Specialised Social Services Eurordis directory. Management vu treatment Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients.

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.

Orphanet: Ectopie du cristallin isolee

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

Ectopia lentis syndrome Familial ectopia lentis Prevalence: IEL does not involve systemic abnormalities. Patients with IEL by definition do not have associated systemic abnormalities, although cardiac cistallin skeletal examinations should be performed to help exclude Marfan syndrome diagnosed according to the Ghent criteria see this term.

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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. 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 Cristalin criteria see this term.

Disease definition Isolated ectopia lentis IEL is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in cdistallin acuity. The prevalence of IEL is not known. Other findings crkstallin congenital abnormalities of the iris, spherophakia, enlarged iris processes leading to etopie iridocorneal angle, iridodonesis, lens coloboma, refractive errors hyperopia, myopia, astigmatismand early-onset cataract. Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications.

Antenatal diagnosis Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutations in the family have been identified.