Abstract

OSCULLO-YEPEZ, Viviana R.; SIERRA-SANTOS, Lucía; OSCULLO-YEPEZ, Jasson J.  and  OSCULLO-YEPEZ, Grace J.. Stickler syndrome: when retinal detachment becomes heritable. Rev Clin Med Fam [online]. 2018, vol.11, n.2, pp.112-115. ISSN 2386-8201.

Case report of an 11-year-old boy who attends Primary Healthcare due to reduced visual acuity, being diagnosed with severe bilateral myopia. After poor clinical course, retinal detachment appears, accompanied with sensorineural hearing loss. This finding, together with orofacial deformities, constitutes Stickler Syndrome. Although it is a rare genetic disease, our objective is to describe its main characteristics, since, whether a casual finding or a family defect, an early diagnosis significantly improves prognosis.

Keywords : Retinal Detachment; Vision Disorders; Hearing Loss.

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