Distrofias de la retina

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Se calcula que en España hay entre 1.800.000 y 2.000.000 de personas afectadas por enfermedades degenerativas de la retina, siendo la más numerosa la población afectada con degeneración macular (800.000 personas). A ésta, le siguen, las retinopatías diabéticas y las distrofias de retina, ambas con medio millón de pacientes afectados, siendo la más frecuente de las distrofias retinianas la retinosis pigmentaria con, aproximadamente, 20.000 personas afectadas. Las distrofias retinianas están consideradas enfermedades raras.

  • Llamamos DEGENERACIONES RETINIANAS a enfermedades de la retina no hereditarias, progresivas, unilaterales o bilaterales.
  • Llamamos DISTROFIAS RETINIANAS a enfermedades de la retina hereditarias, más o menos simétricas y progresivas.

Una peculiaridad que engloba a todas estas patologías es su aparente “invisibilidad” hasta estadios muy avanzados de la enfermedad, momento en el cual se hacen más patentes sus manifestaciones. La importancia del diagnostico precoz y el conocimiento de las causas que las originan siguen siendo factores primordiales para reducir el impacto personal y psicológico de las mismas.

Tipos de herencia:

  • Autosómica dominante (AD):Hay afectados en cada generación. Se afectan por igual hombres y mujeres. La enfermedad se trasmite sólo por individuos afectos. Los sanos no la trasmiten. El riesgo de un hijo de padecer la enfermedad si uno de los padres está afectado es del 50% en cada nacimiento.
  • Autosómica recesiva (AR) : hay una concentración de miembros afectados en la misma generación. Los padres de los pacientes no suelen ser afectados. Se trasmite desde portadores sanos. La posibilidad de heredar el cromosoma afectado de un padre es del 50% y si ambos padres son portadores, la de heredar los dos cromosomas afectados y por tanto desarrollar la enfermedad es del 25%. Suele ser frecuente la consanguinidad entre los progenitores. Se afectan hombres y mujeres con igual frecuencia.
  • Recesiva ligada al sexo (XLR): Por lo general la padecen los hombres, mientras que las mujeres  que son todas portadoras la padecen de una forma mas leve.  Las probabilidades para una madre portadora de tener un hijo afecto son del 50%, mientras que sus hijas tienen el 50% de probabilidades de ser portadoras. El gen afecto se encuentra en el cromosoma X.
  • Herencia mitocondrial

ENFERMEDADES DE LA RETINA

Vamos a agrupar los cuadros más importantes de enfermedades de la retina, según predomine la afectación de las diferentes capas oculares. De esta manera tendremos:

  1. ENFERMEDADES HEREDITARIAS:
    1. Distrofias hereditarias retinianas
      • Con predominio de afectación de bastones:
        • Retinosis pigmentaria
        • Nictalopia congénita estacionaria
      • Con predominio de afectación de conos
        • Enfermedad de Stargardt
      • Mixtas
        • Distrofias  de conos y bastones
        • Enfermedad de Leber

2. Distrofias hereditarias de retina-vítreo

      • Vitreoretinopatia exudativa familiar
      • Retinosquisis
      • Juvenil ligada al sexo
      • Retinosquisis foveal familiar

3. Distrofias hereditarias de la coroides

      • Coroideremia
      • Enfermedad de Norrie

4. Enfermedades sindrómicas

      • Sídrome de Usher
      • Sídrome de Bardet-Biedl
      • Ataxia y R.P. (ACAD tipo II)
      • Neurolipo fucsinosis

II. ENFERMEDADES ADQUIRIDAS:

1. Degeneración macular asociada a la edad

Fuente: FARPE

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