Manifestaciones oftalmológicas en 6 pacientes con síndrome de Williams-Beuren y revisión de la literatura
- C. Calleja-García 1
- A. Muñoz-Gallego 1
- A. Dorado-López-Rosado 1
- C. López-López 1
- P. Tejada-Palacios 112
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1
Hospital Universitario 12 de Octubre
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2
Universidad Complutense de Madrid
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ISSN: 0365-6691
Any de publicació: 2022
Volum: 97
Número: 5
Pàgines: 276-280
Tipus: Article
Altres publicacions en: Archivos de la Sociedad Española de Oftalmologia
Resum
Medical history of 6 patients diagnosed with Williams-Beuren Syndrome (SWB) in pediatric age was revised. All the patients presented characteristic elf facies and cardiovascular abnormalities. All presented good visual acuity, except one case of unilateral amblyopia. The most frequent refractive error was hyperopia (n = 6; 100%) and astigmatism (n = 5; 83.3%). Ocular motility alterations were found in 2 patients (1 case of exophoria with hyperfunction of right inferior oblique and another of congenital endotropia with bilateral hyperfunction of inferior oblique). On the cognitive function, 66.7% (n = 4) had visoperceptive disorders. Other findings were epicanthus (n = 6; 100%) and congenital obstruction of the nasolacrimal duct with unilateral epiphora (n = 1; 16.7%). SWB is a rare disorder with complex ophthalmological and systemic manifestations. For this reason, ophthalmological follow-up of these children is recommended.