Vol. 26 - Num. 103
Clinical Reviews
Marina Ortega Navaridasa, Miguel Ortega Navaridasb, Ana Blanca García Tartasc
aPediatra. CS de Alfaro. La Rioja. España
bMédico de familia. CS de Nájera. La Rioja. España
cPediatra. CS de Rodríguez Paterna. Logroño. La Rioja. España.
Correspondence: M Ortega. E-mail: mortegan@riojasalud.es
Reference of this article: Ortega Navaridas M, Ortega Navaridas M, García Tartas AB. Stickler's syndrome: a cause of pediatric ophthalmopathy . Rev Pediatr Aten Primaria. 2024;26:281-3. https://doi.org/10.60147/b899ce54
Published in Internet: 23-09-2024 - Visits: 1044
Abstract
Stickler's syndrome is a rare genetic disease of connective tissue, with dominant autosomal inheritance most of the time. It is characterized by the association of ophthalmopathy (myopia, retinal detachment and cataracts), orofacial abnormalities, hearing loss and arthropathy, with a wide variability in clinical expression. Diagnostic confirmation is obtained by genetic study. The prognosis varies depending on the severity of the manifestations. The absence of an etiological treatment reduces the therapeutic possibilities to a symptomatic treatment that is very often surgical. The importance of knowing its characteristics lies in an early clinical suspicion to try to avoid irreversible sequelae at an early age and provide the family with adequate genetic counseling.
Keywords
● Cataract ● Hereditary collagenosis ● Retinal detachment ● Stickler syndromeComments
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