elastin and Eye-Diseases

The exfoliation syndrome affects all structures of the ocular anterior segment, as well as the conjunctiva and occasionally, nonocular structures. The exfoliative material has been shown by a series of light microscopic and gross anatomic studies to be only loosely adherent to the anterior lens capsule, zonules and anterior vitreous face, and firmly adherent to the equatorial lens capsule and posterior epithelium of the iris and the nonpigmented ciliary epithelium. Electron microscopy demonstrates that, in these latter regions, exfoliation material consisting of characteristic, cross-banded fibrils embedded in an amorphous matrix, is present both within the epithelial cells and associated with a disorganized, reduplicated basement membrane. These findings suggest that the material arises from the epithelium of the lens, iris and ciliary body, possibly the result of an underlying metabolic disorder. From these areas, the material enters the aqueous humor and later deposits on the anterior lens capsule, zonules, vitreous face, anterior surface of the iris, and trabecular meshwork. Histochemical studies demonstrate the presence of glycosaminoglycans, which may comprise the interfibrillar portion of the exfoliative material. Other studies demonstrate histochemical similarities between exfoliative material and zonules and are supported by recent work suggesting that the exfoliative fibrils are related to the microfibrillar portion of elastin. Although some reports suggest similarities between exfoliative material and amyloid, a majority of histochemical studies do not support this possibility.

Topics: Amyloid; Anterior Eye Segment; Basement Membrane; Ciliary Body; Elastin; Eye Diseases; Humans; Iris Diseases; Lens Capsule, Crystalline; Lens Diseases; Syndrome; Trabecular Meshwork

Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic features.. Sixteen patients with confirmed WBS went through thorough ophthalmologic examination.. The most frequent ocular findings in our group of patients were stellate iris pattern (81.2%), hyperopic astigmatism (50%), hyperopia (37.5%), tortuosity of retinal vessel (37.5%) and strabismus (18.7%).. This is the second report of ophthalmologic abnormalities in a group of Brazilian individuals with WBS. It is extremely valuable that specific populations are studied so that clinical diagnosis can be refined and management of patients can be driven to the most common presentations of the disease.

Topics: Adolescent; Adult; Astigmatism; Brazil; Child; Child, Preschool; Elastin; Eye Diseases; Female; Humans; Hyperopia; In Situ Hybridization, Fluorescence; Iris Diseases; Lim Kinases; Loss of Heterozygosity; Male; Microsatellite Repeats; Polymerase Chain Reaction; Real-Time Polymerase Chain Reaction; Retinal Vessels; Strabismus; Williams Syndrome

The distribution of elastic and related fibres was studied in 29 fibrocellular membranes associated with proliferative vitreoretinopathy using histochemical, immunohistochemical and ultrastructural techniques. Ten subretinal and ten epiretinal membranes were subjected to light microscopical investigation, whilst the remaining nine membranes were examined by transmission electron microscopy. Oxytalan fibres, an elastic fibre precursor that is found in a variety of normal and pathological connective-tissue matrices, were identified in all of the specimens. Mature elastic fibres were not observed in any of the 29 membranes. The demonstration that oxytalan connective-tissue fibres contribute to the infrastructure of PVR membranes adds further evidence to the suggestion that this proliferative tissue might be the result of a repair mechanism.

Topics: Adolescent; Adult; Aged; Connective Tissue; Contractile Proteins; Elastic Tissue; Elastin; Extracellular Matrix Proteins; Eye Diseases; Humans; Immunoenzyme Techniques; Middle Aged; Retinal Diseases; RNA Splicing Factors; Vitreous Body