ECTOPIE DU CRISTALLIN PDF

Alternative titles; symbols. Weill - Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects summary by Dagoneau et al. Genetic Heterogeneity of Weill - Marchesani Syndrome. Weill and Marchesani first described the syndrome. Meyer and Holstein described 4 affected sibs whose parents were related.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Isolated ectopia lentis IEL is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.

The prevalence of IEL is not known. About 90 cases have been reported to date, primarily in Europeans. Patients with IEL are found to have dislocation of the lens, which may present at any age, but may be present from birth.

Dislocation of the lens can be very mild leading to late diagnosis. In more severe cases, the anomaly is generally detected earlier with a greater impact on visual acuity. Lens dislocation may be progressive. 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.

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

They may develop amblyopia. Ocular findings vary widely within families, and between the eyes in an affected individual. IEL does not involve systemic abnormalities. Dislocation of the lens is the result of a loss of zonular fibers.

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

Ectopia lentis is also a feature of homocystinuria, sulfite oxidase deficiency, Weill-Marchesani syndrome, aniridia, and Knobloch syndrome see these terms , as well as pseudoexfoliation.

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

Visual acuity, refractive error, and intraocular pressure should be monitored regularly in affected patients. The primary aim of treatment in children is to prevent amblyopia through early correction of refractive errors. Surgical intervention may be considered by experienced ophthalmic surgeons.

Lensectomy may be considered in patients with cataracts, in cases where the ectopic lens affects vision significantly. Treatment of the resulting aphakia may be with contact lenses. 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. Complications include loss of accommodation, secondary glaucoma, and retinal detachment.

A standard approach should be adopted in cases of retinal detachment. All patients found to have mutations in FBN1 should have regular cardiac examinations. Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications. Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs.

Check this box if you wish to receive a copy of your message. 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. 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.

Etiology Dislocation of the lens is the result of a loss of zonular fibers. Diagnostic methods Diagnosis is based on typical ocular findings through ophthalmologic examination and can be confirmed by molecular genetic testing of the causative genes. 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.

Antenatal diagnosis Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutations in the family have been identified. 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. Detailed information Article for general public Suomi , pdf. Additional information Further information on this disease Classification s 4 Gene s 2 Clinical signs and symptoms Other website s 2. Health care resources for this disease Expert centres Diagnostic tests 82 Patient organisations 50 Orphan designation s and orphan drug s 0.

Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. 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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L'ectopie Du Cristallin

The Glaucomas pp Cite as. The congenital mesodermal dystrophies are systemic diseases and essentially consist of Marfan syndrome arachnodactyly and dolichostenomelia and Marchesani syndrome spherophakia and brachymorphia. Both diseases, as well as their somatic manifestations, affect the eyeball. The basic manifestation is seen in alterations in the position and shape of the lens which, added to other ocular malformations can, secondarily, produce glaucomas. It is transmitted by autosomal dominant inheritance. There are great differences in gene penetrance and expressivity [1]. Unable to display preview.

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