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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Forty-two subjects with classic features of Williams syndrome were evaluated to ascertain the prevalence and severity of the ophthalmologic features associated with the disorder. Twenty-six (62%) had a stellate pattern of the anterior iris stroma which was observed only in individuals with blue or hazel iris color. Twelve (29%) had strabismus, most commonly esotropia. Hypermetropic discs were noted in 18 of 33 patients (55%), a simplex vertical branching of the central retinal vessels at the disc in 23 (70%), and situs inversus vasorum in 5 (15%). No subject had accentuated vascular tortuosity, which has been reported previously as a hallmark of this syndrome. No ocular manifestation of infantile hypercalcemia was noted in any subject.
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PMID:The Williams syndrome. Spectrum and significance of ocular features. 323 33

Five sets of monozygotic (MZ) twins with Williams-Beuren syndrome (WBS) have been reported so far. We report on an additional pair of mz twins concordant for WBS but variable expression for the syndrome. Although both faces look different monozygosity of the twins was proven by DNA fingerprint analysis, HLA, and blood group pattern. Both girls had the typical facial appearance with strabismus. Both had developmental delay, mild supravalvular aortic stenosis (SVAS), hypoplasia of both pulmonary arteries and multiple peripheral pulmonary stenoses, and inguinal hernia. Unilateral renal agenesis was seen in one of the twins. In addition the pedigree pointed to a second disorder with probably autosomal dominant inheritance. Both twins had a cleft palate, but their father had cleft lip and the grandfather as well as the greatgrandfather had cleft lip/palate. Findings of linkage analysis in pedigrees with nonsyndromic oral facial cleft were taken to suggest that a major locus for nonsyndromal oral facial cleft is located on the distal portion of chromosome 6. Linkage studies could serve as a starting point to examine a locus associated with WBS. Our observation and reports on the literature support the hypothesis that WBS is a genetic disorder.
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PMID:Williams-Beuren syndrome in monozygotic twins with variable expression. 825 8

One hundred and fifty-two patients with the Williams-Beuren syndrome were examined to assess the frequency and severity of ophthalmological features associated with the disorder. Eighty-two (54%) had strabismus, all but three, esotropia. One hundred and seventeen (77%) patients had blue irides, 10 (7%) green, and 25 (16%) brown. One hundred and twelve (74%) showed a typical so-called stellate iris pattern of the anterior stroma. Whitish anomalies were also detectable in brown irides. Two 9-year-old patients and one 46-year-old patient had initial cataract. Of all the patients with funduscopy, 22% had retinal vascular tortuosity. One patient had suspected Rieger syndrome. Two patients had ptosis, one with a Marcus-Gunn phenomenon. No ocular manifestation of hypercalcaemia was noted.
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PMID:The spectrum of ocular features in the Williams-Beuren syndrome. 872 68

Strabismus is a frequently recognized manifestation of Williams syndrome [Greenberg and Lewis, 1988: Ophthalmology 95:1608-1612; Kapp et al., 1995: Am J Ophthalmol 119:355-360]. We recently evaluated the ophthalmologic function of 12 patients with Williams syndrome (WS), with an emphasis on binocularity. Four of 12 patients (33%) had measurable strabismus. Of the 8 remaining patients, examination of binocular function was possible in 6, all of whom demonstrated reduced stereoacuity. We speculate that subnormal binocular vision and the poor visuospatial performance observed in patients with WS may be related to abnormal brain morphogenesis in the region of the occipitoparietal cortex.
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PMID:Reduced stereoacuity in Williams syndrome. 898 89

This study investigated the relation between sensory visual problems and the severity of visuospatial difficulties in a large group of young children with Williams' syndrome (WS). A questionnaire describing visual and associated problems was completed by the families of 108 children with WS and detailed follow-up assessments were conducted, including visual, spatial, motor, visuocognitive, and linguistic tests of 73 of these children (mean age 7 years 3 months; 40 males, 73 females). Children with WS showed a much higher incidence of common paediatric sensory vision problems (strabismus, visual acuity loss, amblyopia, reduced stereopsis) than normally developing children. It was found that delays with respect to age normative values increased with age on all tests. No significant correlation was found between the presence of a visual deficit and the severity of the visuospatial problems, suggesting that the difficulties children with WS have in understanding spatial arrangements are not simply a result of their earlier sensory visual problems. Results confirm the dissociation between visuospatial and language abilities in children with WS, and support the neurobiological model of a split between ventral and dorsal stream processing of visual information with a generalized deficit in dorsal stream processing in young children with WS.
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PMID:Visual and visuospatial development in young children with Williams syndrome. 1136 86

We report the case of young boy with Williams-Beuren syndrome with abnormal extraocular muscle insertions that were discovered during routine strabismus surgery. All 4 horizontal rectus muscles were thin, and 3 inserted much further back from the limbus than normal.
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PMID:Abnormal extraocular muscle anatomy in a case of Williams-Beuren Syndrome. 1939 20

Research in the Visual Development Unit on "dorsal stream vulnerability' (DSV) arose from research in two somewhat different areas. In the first, using cortical milestones for local and global processing from our neurobiological model, we identified cerebral visual impairment in infants in the first year of life. In the second, using photo/videorefraction in population refractive screening programs, we showed that infant spectacle wear could reduce the incidence of strabismus and amblyopia, but many preschool children, who had been significantly hyperopic earlier, showed visuo-motor and attentional deficits. This led us to compare developing dorsal and ventral streams, using sensitivity to global motion and form as signatures, finding deficits in motion sensitivity relative to form in children with Williams syndrome, or perinatal brain injury in hemiplegia or preterm birth. Later research showed that this "DSV" was common across many disorders, both genetic and acquired, from autism to amblyopia. Here, we extend DSV to be a cluster of problems, common to many disorders, including poor motion sensitivity, visuo-motor spatial integration for planning actions, attention, and number skills. In current research, we find that individual differences in motion coherence sensitivity in typically developing children are correlated with MRI measures of area variations in parietal lobe, fractional anisotropy (from TBSS) of the superior longitudinal fasciculus, and performance on tasks of mathematics and visuo-motor integration. These findings suggest that individual differences in motion sensitivity reflect decision making and attentional control rather than integration in MT/V5 or V3A. Its neural underpinnings may be related to Duncan's "multiple-demand" (MD) system.
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PMID:The Davida Teller Award Lecture, 2016: Visual Brain Development: A review of "Dorsal Stream Vulnerability"-motion, mathematics, amblyopia, actions, and attention. 2836