Síndrome de Usher tipo I - Presentación de caso
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Date
2020-12-17
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Universidad Antonio Nariño
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http://purl.org/coar/resource_type/c_7a1f
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Abstract
Usher syndrome encompasses a group of autosomal recessive disorders
determined by congenital sensorineural deafness, vestibular alteration, and
progressive retinitis pigmentosa.
The following describes a case of a 19-year-old man who was seen in the low
vision consultation at a specialized visual center in the city of Bogotá, Colombia in
August 2018. This patient has a history of mild hearing problems since birth and
total deafness from 6 months of age, he also has pseudophakia due to cataract in
the left eye at 12 years of age. In the clinical evaluation, the diagnosis of retinitis
pigmentosa is evidenced, which has progressively exacerbated an important
limitation in the peripheral visual field.