fibrin has been researched along with Ectopia-Lentis* in 2 studies
1 review(s) available for fibrin and Ectopia-Lentis
| Article | Year |
|---|---|
Pathophysiology of zonular diseases.
The mechanisms implicated in the clinical manifestations of zonular diseases, especially ectopia lentis, are reviewed.. The molecular mechanisms involve fibrillin in a large spectrum of heritable diseases characterized by zonular stretching. The usual complications are refractive errors, especially myopia, glaucoma (either primary open angle, secondary angle closure and pupil block by anterior displacement of the lens) and retinal detachment.. The genetics and molecular understanding provide information for genetic counseling. Treatment of myopia and glaucoma depend on the underlying mechanism, and lens surgery techniques are continuously improved. Topics: Ectopia Lentis; Fibrin; Glaucoma; Humans; Marfan Syndrome; Refraction, Ocular; Refractive Errors | 2008 |
1 other study(ies) available for fibrin and Ectopia-Lentis
| Article | Year |
|---|---|
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study.
The large glycoprotein fibrillin is a structural component of elastin-containing microfibrils found in many tissues. The Marfan syndrome has been linked to the fibrillin gene on chromosome 15, but congenital contractural arachnodactyly, which shares some of the physical features of the syndrome, has been linked to the fibrillin gene on chromosome 5.. Using specific markers for the fibrillin genes, we performed genetic linkage analysis in 28 families with the Marfan syndrome and 8 families with four phenotypically related disorders--congenital contractural arachnodactyly (3 families), ectopia lentis (2), mitral-valve prolapse syndrome (2), and annuloaortic ectasia (1).. Genetic linkage was established between the Marfan syndrome and only the fibrillin gene on chromosome 15, with a maximum lod score of 25.6 (odds for linkage, 10(25.6):1). Ectopia lentis was also linked to the fibrillin gene on chromosome 15, whereas congenital contractural arachnodactyly was linked to the fibrillin gene on chromosome 5. There was no linkage of mitral-valve prolapse to the fibrillin gene on chromosome 5; studies of chromosome 15 were not informative. Annuloaortic ectasia was not linked to either fibrillin gene.. The Marfan syndrome appears to be caused by mutations in a single fibrillin gene on chromosome 15. Diagnosis of the Marfan syndrome by genetic linkage and analysis is now feasible in many families. Topics: Base Sequence; Chromosomes, Human, Pair 15; Chromosomes, Human, Pair 5; Ectopia Lentis; Female; Fibrin; Genetic Linkage; Humans; Lod Score; Male; Marfan Syndrome; Mitral Valve Prolapse; Molecular Sequence Data; Phenotype | 1992 |