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.
|Published (Last):||3 November 2011|
|PDF File Size:||6.82 Mb|
|ePub File Size:||2.20 Mb|
|Price:||Free* [*Free Regsitration Required]|
Some patients are also found to have displacement of the pupils, usually in the opposite direction crsitallin lens displacement known as ectopia lentis et pupillae. 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.
Management and treatment Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients.
Dislocation of the lens can be very mild leading to late diagnosis. Prognosis Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications. Complications include loss of accommodation, secondary glaucoma, and retinal detachment. Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients.
Lensectomy may be considered in patients with cataracts, in cases where the ectopic lens affects vision significantly. Isolated ectopia lentis IEL is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity. Visual prognosis depends on cristwllin degree of lens dislocation, the age of onset, age of treatment and complications. Summary and related texts.
Ectopie cristallin laxité zonulaire OD – Docteur Damien Gatinel
Ectopia lentis syndrome Familial ectopia lentis Prevalence: Diagnostic methods 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. 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.
Specialised Social Services Eurordis directory.
Research / Education
Patients with IEL are found to have dislocation of the lens, which may present at any age, but may be present from birth.
The exact function of these genes has not been clearly established. Ectopia lentis is also a feature of homocystinuria, sulfite oxidase deficiency, Weill-Marchesani syndrome, aniridia, and Knobloch syndrome see these termsas well as pseudoexfoliation. All patients found to have mutations in FBN1 should have regular cardiac examinations.
Additional information Further information on this disease Classification s 4 Gene s 2 Clinical signs and symptoms Other website s 2. Professionals Summary information Suomipdf Anesthesia guidelines Englishpdf Clinical genetics review English The prevalence of IEL is not known. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.
About 90 cases have been reported to date, primarily in Europeans.
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. Dislocation of the lens is the result of a loss of zonular fibers. The primary aim of treatment in children is to prevent amblyopia through early correction of refractive errors.
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.
A standard approach should be adopted in cases of ectolie detachment. Lens dislocation may be progressive. IEL does not involve systemic abnormalities. Antenatal diagnosis Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutations in the family have been identified.
Only comments written in English can be processed.
Surgical intervention may be considered by experienced ophthalmic surgeons. Etiology Dislocation of the lens is the result of a loss of zonular fibers.
Y a-t-il un traitement chirurgical inoffensif de l’ectopie du cristallin?
For all cu comments, please send your remarks via contact us. Health care resources for this disease Expert centres Diagnostic tests 63 Patient organisations 38 Orphan drug s 0. 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.
Other search option s Alphabetical list. In more severe cases, the anomaly is generally detected earlier with a greater impact on visual acuity.
They may develop amblyopia. Ocular findings vary widely within families, and between the eyes in an affected individual.