William’s syndrome is a congenital multisystem disorder involving the cardiovascular, connective tissue and central nervous systems. The aim of this study was to evaluate the frequency and severity of ophthalmic manifestations and associated diseases as well as provide epidemiology data in patients with this syndrome. This was a longitudinal prospective observation study of 30 patients whose diagnosis was confirmed by fluorescence in situ hybridisation (FISH) test. The study included 15 females and 15 males with an average age of 14.5 years ±1.38. Fifty-seven percent were white, 33% mixed race and 10% black. All presented with a typical face, delayed development and mental retardation, friendly personality and dental and skeletal abnormalities. Fifty percent had glasses before first ophthalmic examination. Seventy-seven percent had refractive error of which hypermetropia was most common in 67%, followed by astigmatism (20%) and myopia (7%). It showed 84% had a best corrected visual acuity of 20/20 with only one case of amblyopia with 20/50 acuity. Also 23% had epicanthus, 10% had stellate patterns of the iris and 36.7% had strabismus (30% esotropia and 6.7% exotropia). Seventy percent had normal ocular motility whilst 27% had oblique muscle over action and 3% had oblique muscle under action. Abnormal binocular vision was found in 43%. Diffuse arterio-venous tortuosity was noted in 27%.

William’s syndrome: ophthalmological examination and review of systemic manifestations.
Weber SLP, Souza RB, Ribeiro LG, et al.
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Fiona Rowe (Prof)

Institute of Population Health, University of Liverpool, UK.

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