Purpose: To describe and analyze the clinical manifestation of Usher's syndrome and to study their hereditary standard as well. Methods: Four patients with Usher's syndrome were studied at Ophthalmologic Clinic of the Getúlio Vargas Hospital, in Teresina-PI, between December, 1997 and March, 1999. The patients were scheduled for tests of visual acuity, refraction, biomicroscopy, direct and indirect ophthalmoscopy, tonometry, retinography, visual field with Goldman perimeter and audiometry. Family's pedigree was built and an anamnesis and indirect binocular ophthalmoscopy of 63 (sixty-three) relatives were performed. Results: Of the four patients with Usher's syndrome, one was of type I and three of type II. Their visual acuity varied from 20/100 to 20/400 and the dysacusis was from moderate to severe. All patients had retinitis pigmentosa, and tubular visual field. Conclusion: It is important to make the ophthalmologist aware of Usher's syndrome diagnosis in face of a case of retinitis pigmentosa, calling attention to the autosomal recessive inheritance pattern of the disease as well as to instruct the patients about the clinic manifestations of the disease and the importance of their being treated and attended by an ophthalmogist and otolaryngologist.
Retinitis pigmentosa; Retinitis pigmentosa; Eye abnormalities; Hearing loss, sensorineural; Syndrome
