ECTOPIE DU CRISTALLIN PDF

      No Comments on 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.

Author: Kazijora Nilabar
Country: Cambodia
Language: English (Spanish)
Genre: Technology
Published (Last): 13 June 2018
Pages: 408
PDF File Size: 11.78 Mb
ePub File Size: 12.38 Mb
ISBN: 156-3-18619-287-5
Downloads: 13246
Price: Free* [*Free Regsitration Required]
Uploader: Kajit

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

Professionals Summary information Suomipdf Anesthesia guidelines Englishpdf Clinical cristqllin review English Dislocation of the lens can be very mild leading to late diagnosis. 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.

All patients found to have mutations in FBN1 should have regular cardiac examinations. The exact function of these genes has not been clearly established.

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. Patients with IEL are found to have dislocation of the lens, which may present at any age, but may be present from birth. Treatment of the resulting aphakia may be with contact lenses.

The primary aim of treatment in children is to prevent amblyopia through early correction of refractive errors. Mutations in the former are thought to be the most important cause of this condition in Europeans. 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.

  GEORGES PEREC ELLIS ISLAND PDF

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.

Health care resources for this disease Expert centres Diagnostic tests 63 Patient organisations 38 Orphan drug s 0. Detailed information Article for general public Suomipdf.

Prognosis Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications. The prevalence criwtallin IEL is not known. Additional information Further information on this disease Classification s 4 Gene s 2 Clinical signs and symptoms Other website s 2.

Complications include loss of accommodation, secondary glaucoma, and retinal detachment.

ectopie du cristallin en inférieur schéma – Docteur Damien Gatinel

Management and treatment Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients. Isolated ectopia lentis IEL is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity. A standard approach should be adopted in cases of retinal detachment.

Antenatal diagnosis Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutations in the family have been identified. Ocular findings vary widely within families, and between the eyes in an affected individual. Lens dislocation may be progressive. For all other comments, please send your remarks via contact us. Differential diagnosis Patients with IEL by definition do not have associated systemic abnormalities, although cardiac and skeletal examinations should be performed to help etcopie Marfan syndrome diagnosed according to the Ghent criteria see this term.

Summary and related texts. Dislocation of the lens is the result of a loss of zonular fibers. IEL does not involve systemic abnormalities.

Research / Education

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.

  BRUNO TAUT ALPINE ARCHITECTURE PDF

Etiology Dislocation of the ectopke is the result of a loss of zonular fibers. Surgical intervention may be considered by experienced ophthalmic surgeons. Only comments written in English can be processed. Lensectomy may be considered in patients with cataracts, in cases where the ectopic lens affects vision significantly. 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.

Su this box if you wish cristallih receive a copy of your message. They may develop amblyopia. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. In more severe cases, the anomaly is generally detected earlier with a greater impact on visual acuity.

About 90 cases have been reported to date, primarily in Europeans. Other search option s Alphabetical list.

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

Ectopia lentis syndrome Familial ectopia lentis Prevalence: Ectopia lentis is also a feature of homocystinuria, sulfite oxidase deficiency, Weill-Marchesani syndrome, aniridia, and Knobloch syndrome see these termsas well as pseudoexfoliation. The documents contained in this web site are presented for information purposes only.

Diagnosis is based on typical ocular findings through ophthalmologic examination and can be confirmed by molecular genetic testing of the causative genes. Visual acuity, refractive error, and extopie pressure should be monitored regularly in affected patients. Visual prognosis depends on the degree of lens dislocation, the age of ectlpie, age of treatment and complications. Specialised Social Services Eurordis directory.