Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a 42-year old female with Werner's syndrome, an autosomal recessive connective tissue disorder, characterised, in her case, by juvenile cataract, chronic ulcers on the feet, characteristic skin changes, a typical appearance of the face ('bird-like face'), severe deformities of the feet, generalised osteoporosis, soft tissue calcifications and a high pitched hoarse voice. Werner's syndrome has to be distinguished from systemic sclerosis in particular. No causal therapy is available.
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PMID:[A female patient with Werner's syndrome]. 832 11

Cambridge Antibody Technology is developing lerdelimumab (CAT-152), the lead in a series of human anti-TGF beta 2 antibodies, for its potential in preventing post-operative scarring in patients undergoing surgery for glaucoma (trabulectomy). It also has potential for the treatment of fibrosis, cataract, retinopathy and connective tissue disease.
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PMID:Technology evaluation: lerdelimumab, Cambridge Antibody Technology. 1277 12

Weill-Marchesani syndrome (WMS) is a genetic connective tissue disorder associated with fibrous tissue hyperplasia. Weill-Marchesani syndrome is characterized by short stature, broad head and other facial abnormalities such as hypoplastic maxilla and distinctive ocular abnormalities. Joint stiffness is one of the features of this syndrome. We report 5 cases with classical features of WMS who were subjected to different ophthalmic procedures. To the best of our knowledge, this is the first series on the anesthetic management of this rare syndrome. We observe that patients with WMS can present for cataract, glaucoma as well as retinal surgery. Special consideration should be given to difficult intubation, cardiac abnormalities and patient positioning.
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PMID:Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. 1674 67

Pseudoexfoliation syndrome (PEX) is a chronic, systemic, connective tissue disease. Its hallmark is the accumulation of an abnormal, amyloid-like material in the anterior segment tissues of the eye. PEX is one of the risk factors in the development of lens opacification. The aim of the paper is a presentation of the current knowledge on the relationship between pseudoexfoliation syndrome and cataract. Special attention is paid to pathogenetic and epidemiologic factors.
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PMID:[The influence of the pseudoexfoliation syndrome on cataract development]. 1866 95

Cutis laxa (CL) is a connective tissue disorder, characterized by loose, inelastic, sagging skin. Both acquired and inherited (dominant, recessive, and X-linked) forms exist. Here, we describe a new phenotype, which overlaps with other known CL syndromes. Our patient has a unique combination of features in association with sagging, inelastic, wrinkled skin, including cataract, severe cardiomyopathy, abnormal fat distribution, improvement of skin-wrinkling with age, and white matter abnormalities but no significant histologic collagen or elastin abnormalities. Mutation analysis of known CL genes was negative. We suggest that our patient has a novel syndrome, with the main features of CL, intellectual disability, abnormal fat distribution, cardiomyopathy, and cataract.
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PMID:A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract. 2445 10

Marfan syndrome is an autosomal dominant genetic connective tissue disorder that results from mutations in the fibrillin-1 gene located on chromosome band 15q15-21. Fibrillin, a glycoprotein, is widely expressed throughout the body and contributes to the elasticity and force-bearing capacity of connective tissue. In the eye, fibrillin is a key constituent of the ciliary zonules, which suspend the crystalline lens in place. The zonular defect leads to ectopia lentis, which is a hallmark of Marfan ocular abnormalities and occurs in 60% to 80% of cases. Other less common ocular features of Marfan syndrome are increased axial length, astigmatism, and flat cornea. Visual function in Marfan syndrome could be affected in several ways: ectopia lentis, refractive error, amblyopia, retinal detachment, cataract, and glaucoma. Management of a subluxated lens starts with the correction of refractive error with eyeglasses in mild cases. In more severe cases, especially when the lens bisects the pupil, complete correction of refractive error is impossible without removing the subluxated lens. The best method for visual rehabilitation after lens extraction is still debated. Aphakic Artisan lens implantation at the time of subluxated lens removal results in good visual outcomes with an acceptable safety profile. Studies with longer term follow-up and larger sample populations are needed to evaluate the safety of this procedure in patients with Marfan syndrome.
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PMID:Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective. 3082 Feb 90