elastin and Strabismus

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

To compare the localization and density of collagens I, IV, VI, and elastin, the major protein components of connective tissue, in the inferior oblique muscle of patients with overelevation in adduction and in controls and to characterize changes that develop following surgery. Biomechanical studies suggest that the connective tissue matrix plays a critical role in extraocular muscle function, determining tensile strength and force transmission during contraction.. Prospective laboratory-based case-control study of inferior oblique muscle specimens from 31 subjects: 16 with primary inferior oblique overaction, 6 with craniofacial dysostosis, and 9 normal controls. Collagen I, IV, VI, and elastin were localized and quantified using immunohistochemical staining. Densities were compared using analysis of variance and post hoc comparisons.. In primary inferior oblique overaction, all connective tissue components in unoperated specimens were elevated compared to controls (P<.0001). Previously operated muscles showed normal levels of collagens IV and VI (P>.27) but increased collagen I. In unoperated craniofacial dysostosis specimens, only elastin was elevated (P=.03), whereas density of collagens IV and VI was lower in previously operated vs unoperated specimens (P=.015).. Elevated collagen and elastin levels in the cohort with primary inferior oblique overaction are consistent with the clinical finding of muscle stiffness. Contrarily, normal connective tissue densities in craniofacial dysostosis support the hypothesis that overelevation in this group reflects anomalous muscle vectors rather than tissue changes. Surgical intervention was associated with changes in the connective tissue matrix in both cohorts. These results have ramifications for treating patients with overelevation in adduction.

Topics: Adult; Aged; Child; Child, Preschool; Collagen Type I; Collagen Type IV; Collagen Type VI; Connective Tissue; Elastin; Extracellular Matrix Proteins; Female; Humans; Immunoenzyme Techniques; Infant; Male; Middle Aged; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Strabismus