Síndrome de Usher

También conocido como síndrome de Graefe-Usher, éste síndrome supone aproximadamente el 3-6% de las sorderas congénitas y entre el 3 y el 18% de las RP.

Se hereda típicamente de forma recesiva aunque se han descrito casos excepcionales de herencia dominante.

En ocasiones, la sordera se manifiesta desde el nacimiento y se acompaña, por lo tanto, de mutismo pero también puede desarrollarse con posterioridad y afectar particularmente a los tonos altos. A veces son evidentes síntomas vestibulares.

Dentro del síndrome de Usher se distinguen dos e incluso cuatro tipos cuya heterogeneidad clínica se relaciona con su heterogeneidad genética:

  • Tipo I. Sordera neurosensorial bilateral, profunda y congénita y un lenguaje ininteligible.. Todos los pacientes presentan alteraciones vestibulares y una ataxia no progresiva. Los síntomas de RP apareden en la infancia tardía o al inicio de la adolescencia y progresan lentamente, siendo las alteraciones visuales significativas al final de la tercera década de vida.
  • Tipo II. Sordera neurosensorial congénita no progresiva entre moderada y profunda. Las respuestas vestibulares son normales y los síntomas de RP aparecen al final de la adolescencia. Generalmente el lenguaje de estos pacientes es inteligible. La función visual se conserva hasta la quinta-sexta década de la vida. La gravedad de las alteraciones visuales y audiométricas suele ser igual entre los miembros de una misma familia aunque no ocurre los mismo con el grado de pé,rdida del campo visual y los cambios pigmentarios del fondo del ojo.
  • Tipo III. Se describe como la rara asociación entre sordera neurosensorial progresiva y RP, la cual supone menos del 1% de todos los casos de síndrome de Usher. La edad de comienzo de la sordera varía desde la infancia temprana hasta la edad adulta, seguramente en base a la heterogeneidad genética.
  • Tipo IV. Se sugiere para designar a los pacientes del Tipo I con retraso mental.

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