Resumen Introduccion. El Sindrome de Usher (USH), de herencia autosomica recesiva, se caracteriza por sordera congenita sensorial, Retinitis Pigmentosa y disfuncion vestibular. Se conocen 3 tipos clinicos y 12 subtipos geneticos. En Colombia no se conocen las frecuencias de los subtipos geneticos ni las mutaciones mas frecuentes. Objetivo. El objetivo de este trabajo fue definir el subtipo genetico en 72 individuos con USH e identificar las mutaciones causantes de la enfermedad. Metodos . Se identificaron 72 individuos con USH de diferentes ciudades del pais. Se realizo analisis de haplotipos para los 12 loci asociados a USH hasta el momento y analisis mutacional de los exones con mayor frecuencia de mutaciones reportadas en los genes USH. Resultados . Se logro definir el subtipo genetico en 23 individuos y se identifico la mutacion causal en 14. Se identifi caron dos mutaciones en el gen MYO7A, la p.R634X y la p.R1986X; y tres en el gen USH2A, la c.2299delG, la p.R334W, y la g.G129T. Conclusion. Se logro identificar el subtipo genetico en el 31.9% y la mutacion causal en el 19.4% de la poblacion. Palabras clave: Sindrome de Usher, Retinitis Pigmentosa, Sordera, Hipoacusia Sensorial. Usher Syndrome Subtypes Definition in Colombian Population Abstract Introduction. Usher Syndrome (USH), is an autosomal recessive disorder characterized by the association of sensorineural hearing loss, retinitis pigmentosa (RP) and variable vestibular areflexia. Three clinical types and 12 genetic subtypes have been described. In Colombia, frequencies of genetic subtypes and more frequent mutations are unknown. Objective. The aim of this work was to defi ne the genetic subtype in Colombian population with USH. Methods. 72 individuals with USH were selected from different cities around the country. Haplotype analysis was performed to identify segregation to any of the 12 known USH loci. Mutational analysis of some exons was performed in USH genes. Results. Genetic subtype of 23 individuals and pathological mutation in 14 were identified. Two mutations were identifi ed in MYO7A gene, p.R634X and p.R1986X; and three in the USH2A gene, c.2299delG, p.R334W, and g.G129T. Conclusion . Genetic subtype was identified in 31.9% of the population and pathologic mutation in 19.4%. Key words: Usher Syndromes, Retinitis Pigmentosa, Deafness, Hearing Loss, Sensorineural.