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 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.
Detailed information Article for general public Suomipdf. Specialised Social Services Eurordis directory.
Management and treatment Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients.
Prognosis Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications. In more severe cases, the anomaly is generally detected earlier ddu a greater impact on visual acuity.
Check this box if you wish to receive a copy di your message. Health care resources for this disease Expert centres Diagnostic tests 63 Patient organisations 38 Orphan drug s 0. They may develop amblyopia. Patients with IEL are found to have dislocation of the lens, which may present at any age, but may be present from birth. 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.
Y a-t-il un traitement chirurgical inoffensif de l’ectopie du cristallin?
Etiology Dislocation of ecctopie lens is the result of a loss of zonular fibers. Dislocation of the lens is the result of a loss of zonular fibers.
Lens dislocation may be progressive. Professionals Summary information Suomipdf Cristallun guidelines Englishpdf Clinical genetics review English About 90 cases have been reported to date, primarily in Europeans.
Mutations crisstallin the former are thought to be the most important cause of this condition in Europeans. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutations in the family have been identified. Summary and related texts. 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. Only comments seeking to improve the quality rcistallin accuracy of information on the Orphanet website are accepted.
Complications include loss of accommodation, secondary glaucoma, and retinal detachment. Isolated ectopia lentis IEL is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity. 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.
IEL does not involve systemic abnormalities. Dislocation of the lens can be very mild leading to late diagnosis. Ectopia lentis syndrome Familial ectopia lentis Prevalence: The documents contained in this web site are presented for information purposes only.
Research / Education
Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients. Ocular findings vary widely within families, and between the eyes in an cristallih individual. Other search option s Alphabetical list.
Clinical description Patients with IEL are found to have dislocation of the lens, which may present at cristallih age, but may be present from birth. 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.
The exact function of these genes has not been clearly established. 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. Alternatively, an intraocular lens IOL may be inserted in the anterior chamber, and sutured or glued into cristallln posterior chamber or into the capsule, if it has been preserved during surgery.