Stickler's syndrome: a cause of pediatric ophthalmopathy

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.