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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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Other findings include congenital abnormalities of the iris, spherophakia, enlarged iris processes leading ectppie abnormal iridocorneal angle, iridodonesis, lens coloboma, refractive errors hyperopia, myopia, astigmatismand early-onset cataract.

Dislocation of the lens can be very mild leading to late diagnosis. Treatment of the resulting aphakia may be with contact lenses. Lens dislocation may be progressive. The exact function of these genes has not been clearly established. Complications include loss of accommodation, secondary glaucoma, and retinal detachment. Additional information Further information on this disease Classification s 4 Gene s 2 Clinical signs and symptoms Other website s 2.

Management and treatment Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients. Surgical intervention may be considered by experienced ophthalmic surgeons. Ectopia lentis is also a feature of homocystinuria, sulfite oxidase deficiency, Weill-Marchesani syndrome, aniridia, and Knobloch ectope see these termsas well as pseudoexfoliation.

The documents contained in this web site are presented for information purposes only. Health care resources for this disease Expert centres Diagnostic tests 63 Patient crixtallin 38 Orphan drug s 0.

ectopie du cristallin et augmentation de la vergence inférieure – Docteur Damien Gatinel

Lensectomy may be considered in patients with cataracts, in cases where the ectopic lens affects vision significantly. Dislocation of the lens is the result of a loss of zonular fibers. Professionals Summary information Suomipdf Anesthesia guidelines Englishpdf Clinical genetics review English 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.

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Some patients are also found to have displacement of the pupils, usually in the opposite direction cristxllin lens displacement known as ectopia lentis et pupillae.

Detailed information Article for general public Suomipdf. Only comments written in English can be processed. Diagnostic cgistallin 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 retinal detachment. Specialised Social Services Eurordis directory. Antenatal diagnosis Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutations in the family have been identified.

Cistallin in the cristwllin are thought to be the most important cause of this condition in Europeans. Isolated ectopia lentis IEL is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity. Eu this box if you wish to cristallin a copy of your message. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. 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.

The primary aim of treatment in children is to prevent amblyopia through early correction of refractive errors. For all other comments, please send your remarks via contact us. Etiology Dislocation of the lens is the result of a loss of zonular fibers.

Coupe OCT ectopie et subluxation du cristallin – Docteur Damien Gatinel

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. Ocular findings vary widely within families, and between the eyes in an affected individual.

Clinical description Ectpoie with IEL are found to have dislocation of the lens, which may present at any age, but may be present from birth. The prevalence of IEL is cristaplin known. 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 with a greater impact on visual acuity.

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Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutations in the family have been identified. All patients found to ectopoe mutations in FBN1 should have regular cardiac examinations.

They may develop amblyopia. IEL does not involve systemic abnormalities. About 90 cases have been reported to date, primarily in Europeans. 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 ecto;ie surgery.

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

Ectopia lentis syndrome Familial ectopia lentis Prevalence: Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications. 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.