Ophthalmological manifestations in 6 patients diagnosed with Williams-Beuren syndrome and literature review.
Arch Soc Esp Oftalmol (Engl Ed)
; 97(5): 276-280, 2022 May.
Article
em En
| MEDLINE
| ID: mdl-35292219
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 (nâ¯=â¯6; 100%) and astigmatism (nâ¯=â¯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% (nâ¯=â¯4) had visoperceptive disorders. Other findings were epicanthus (nâ¯=â¯6; 100%) and congenital obstruction of the nasolacrimal duct with unilateral epiphora (nâ¯=â¯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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Erros de Refração
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Astigmatismo
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Ambliopia
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Síndrome de Williams
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Hiperopia
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
Limite:
Child
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Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article