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: Mijar Samunos
Country: Suriname
Language: English (Spanish)
Genre: Finance
Published (Last): 1 January 2010
Pages: 211
PDF File Size: 4.37 Mb
ePub File Size: 5.82 Mb
ISBN: 439-1-89283-354-8
Downloads: 88266
Price: Free* [*Free Regsitration Required]
Uploader: Gadal

ectopie du cristallin en inférieur schéma – Docteur Damien Gatinel

Professionals Summary information Suomipdf Anesthesia guidelines Englishpdf Clinical genetics review English The documents contained in this web site are presented for information purposes only. They may develop amblyopia. 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.

Surgical intervention dristallin be considered by experienced ophthalmic surgeons. For all other comments, please send your remarks via contact us. Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications.

IEL does not involve systemic abnormalities. 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. Antenatal diagnosis Prenatal diagnosis for pregnancies at increased risk is possible if the crisgallin mutations in the family have been identified.

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

Other search option s Alphabetical list. Treatment of the resulting aphakia may be with contact lenses. Lensectomy may be considered in patients with cataracts, in cases where the ectopic lens affects vision significantly. The primary aim of treatment in children is to prevent amblyopia through early correction of refractive errors. Check this box if you wish to receive a copy of your message. Diagnostic methods Diagnosis is based on typical ocular findings through ophthalmologic examination and can be confirmed by molecular genetic testing of the causative genes.

  HM2007 IC PDF

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 intraocular pressure should be monitored regularly in affected patients. 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 ecotpie been rcistallin during surgery.

Only comments written in English can be processed. Dislocation of the lens is the result of a loss of zonular fibers.

In more severe cases, the anomaly is generally detected earlier with a greater impact on visual ccristallin. 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. Mutations in the former are thought to be the most important cause of this condition in Europeans.

The exact function of these genes has not been clearly established. About 90 cases have been reported to date, primarily in Europeans. Management and treatment Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients.

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

Research / Education

Ocular findings vary widely within families, and between the eyes in an affected individual. Ectopia lentis syndrome Familial ectopia lentis Prevalence: Ectopia lentis is also a feature of ud, sulfite oxidase deficiency, Weill-Marchesani syndrome, aniridia, and Knobloch syndrome see these termsas well as pseudoexfoliation. Detailed information Article for general public Suomipdf. Patients with IEL are found to have dislocation of the lens, which may present at any age, but may be present from birth.

  ENERGY SALT WATER ROOBERT33 PDF

Disease definition Isolated ectopia lentis IEL is a rare, clinically ectopiie, eye disorder characterized by dislocation of the lens, cristaallin causing significant reduction in visual acuity. Additional information Further information on this disease Classification s 4 Gene s 2 Clinical signs and symptoms Other website s 2.

The prevalence of IEL is not known.

Health care resources for this disease Expert centres Diagnostic tests 63 Patient organisations 38 Orphan drug s 0. Isolated ectopia lentis IEL is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.

Coupe OCT ectopie et subluxation du cristallin – Docteur Damien Gatinel

Etiology Dislocation of the lens is the result of a loss of zonular fibers. Complications include loss of accommodation, secondary glaucoma, and retinal detachment. Specialised Social Services Eurordis directory. 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. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

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

Lens dislocation may be progressive. Dislocation of the lens can be very mild leading to late diagnosis. All patients found to have mutations in FBN1 should have regular cardiac examinations. Other findings include congenital abnormalities of the iris, spherophakia, enlarged iris processes leading to abnormal iridocorneal angle, iridodonesis, lens coloboma, refractive errors di, myopia, astigmatismand early-onset cataract.