Usher syndrome type 2 congenital deafness and subnormal vision in the adult: case report
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Abstract
Objective: To describe the late diagnosis of a case of Usher Syndrome (US), analyze the clinical manifestations and classify the disease using ophthalmological findings, in addition to comparing them to the current literature. Case details: G.A.S, a 32-year-old woman, came to the consultation complaining of low visual acuity with worsening of night vision. She had LUPUS, systemic arterial hypertension, dyslipidemia, sensorineural hearing loss using a device, previous eye surgeries, phaco+lio in 2009 and 2016. Visual Acuity (VA) 20/50 in the Right Eye (OD) and 20/60 in the Left Eye (OS) with corrective lenses, tonometry 10 mmhg OD and 13 mmhg OS, biomicroscopy unchanged in both eyes (OU). On campimetry she presented peripheral Visual Field (VF) loss in OU. Funduscopy showed pale optic discs, vascular narrowing and bone spikes in OU. Final considerations: SU is characterized by the association of Retinosis Pigmentosa (RP) and congenital deafness, partial or total. It is an autosomal disease, inherited recessively. The clinical findings, together with the complementary exams, supported the diagnosis of RP and SU subtype 2. Early diagnosis would allow interventions that would modify the course of the disease and thus reduce future harm to the patient's health.
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