Manifestaciones oftalmológicas en 6 pacientes con síndrome de Williams-Beuren y revisión de la literatura

  1. C. Calleja-García 1
  2. A. Muñoz-Gallego 1
  3. A. Dorado-López-Rosado 1
  4. C. López-López 1
  5. P. Tejada-Palacios 112
  1. 1 Hospital Universitario 12 de Octubre
    info

    Hospital Universitario 12 de Octubre

    Madrid, España

    ROR https://ror.org/00qyh5r35

  2. 2 Universidad Complutense de Madrid
    info

    Universidad Complutense de Madrid

    Madrid, España

    ROR 02p0gd045

Journal:
Archivos de la Sociedad Española de Oftalmologia

ISSN: 0365-6691

Year of publication: 2022

Volume: 97

Issue: 5

Pages: 276-280

Type: Article

DOI: 10.1016/J.OFTAL.2021.04.005 DIALNET GOOGLE SCHOLAR

More publications in: Archivos de la Sociedad Española de Oftalmologia

Abstract

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.

Data source: Dialnet