[Ocular changes in the Williams-Beuren syndrome].
One of the signs of Williams-Beuren syndrome are typical opthalmological findings. In a group of 13 patients with this disease, in 7 esotropia was detected, in 8 a star-shaped iris and in 9 hyperopia. Three children had yellowish opalescent spots in the stroma of the cornea and in one patient cataracta punctata was found. A tortuous course of the retinal vessels was found in three patients, incl. two with elevated arterial pressure. Detection of these ophthalmological changes can contribute to the correct diagnosis of Williams-Beuren's syndrome.
Katedra oftalmológie LF UK, Bratislava.
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Bzdúch
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D001024:Aortic Valve Stenosis; D002648:Child; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D013577:Syndrome
Ocné zmeny pri Williamsovom-Beurenovom syndróme.