A menudo diagnosticada en la niñez o adolescencia, la RP es una enfermedad retiniana hereditaria que causa una pérdida progresiva de la visión nocturna y periférica. La condición a menudo conlleva a una ceguera legal y a veces completa.
Sobre la Enfermedad
La retinitis pigmentaria, también conocida como RP, se refiere a un grupo de enfermedades hereditarias que causan degeneración retiniana. La retina es una delgada pieza de tejido que reviste la parte trasera del ojo. Los fotorreceptores de conos y bastones en la retina convierten la luz en señales eléctricas que el cerebro interpreta como visión. La gente con RP experimenta una disminución gradual en su visión, porque los fotorreceptores se degeneran.
Las formas de RP y enfermedades relacionadas incluyen el síndrome de Usher, Amaurosis congénita de Leber, y el síndrome de Bardet-Biedl, entre otras.
Síntomas
Los síntomas dependen de si se ven involucrados inicialmente los conos o bastones. En la mayoría de las variantes de RP, los bastones son afectados primero. Debido a que los bastones están concentrados en las porciones exteriores de la retina y son activados por luz tenue, su degeneración afecta a la visión periférica y nocturna. La visión se vuelve más oprimida con el pasar del tiempo. Si la enfermedad progresa y los conos se ven afectados, la agudeza visual, percepción de color, y visión central disminuirán.
La ceguera nocturna es uno de los síntomas más tempranos y frecuentes de la RP. Las personas perincipalmente con degeneración de conos, sin embargo, primero experimentan una visión central disminuida y una habilidad reducida para discriminar colores y percibir detalles.
La RP se diagnostica típicamente en niños, adolescentes y adultos jóvenes. Es un desorden progresivo. La tasa de progresión y el grado de pérdida visual varían según la persona. Muchas personas con RP llegan legalmente ciegas a los 40 años, con un campo visual central de menos de 20 grados de diámetro.
Herencia
Se estima que 100.000 personas en EEUU tienen RP, principalmente causada por mutaciones (variaciones) en un único gen heredado de uno o ambos padres. El gen mutado le da instrucciones incorrectas a las células fotorreceptoras, diciéndoles que hagan una proteína incorrecta, o muy poca o demasiada proteína. (Las células necesitan la cantidad apropiada de proteínas específicas para poder funcionar adecuadamente.) Mutaciones en decenas de genes han sido vinculadas a la RP.
Las mutaciones genéticas pueden pasarse del padre a la descendencia a través de uno de los tres patrones genéticos de herencia: autosomal recesivo, autosomal dominante, o vinculado a X.
En la RP autosomal recesiva, ambos padres portan una copia del gen mutado y una copia normal, pero no tienen síntomas. Por lo tanto se los llama portadores no afectados. Cada uno de sus hijos tiene un 25% de probabilidad de verse afectado por la herencia de una copia mutada de cada padre. Si el hijo hereda una copia mutada de un padre, se convertirá en un portador no afectado.
En la RP autosomal dominante, usualmente un padre es afectado y es el único padre con una copia mutada del gen. Un hijo tiene un 50% de probabilidad de verse afectado a través de la herencia de una copia mutada. No se conoce rol alguno de la genética de padres no afectados en la herencia de la enfermedad.
En la RP vinculada a X, el gen mutado de la enfermedad está ubicado en el cromosoma X. Las mujeres tienen dos cromosomas X y pueden portar el gen de la enfermedad en uno de sus cromosomas X. Como tienen una versión saludable del gen en su otro cromosoma X, las portadoras mujeres usualmente no se ven afectadas por las enfermedades vinculadas a X. Los varones sólo tiene un cromosoma X (emparejado con un cromosoma Y) y por lo tanto son genéticamente más susceptibles a enfermedades vinculadas a X. Los varones con enfermedades vinculadas a X pasan su cromosoma Y a sus hijos varones, y por lo tanto nunca pasarán una enfermedad vinculada a X a sus hijos varones. Las portadoras mujeres tienen un 50% de probabilidad (o 1 probabilidad en 2) de pasar el gen de la enfermedad vinculada a X a sus hijas mujeres, las cuales se vuelven portadoras, y un 50% de probabilidad de pasar el gen a sus hijos varones, quienes serán afectados por la enfermedad.
Si un familiar es diagnosticado con RP, a menudo se aconseja que otros miembros de la familia también examinen sus ojos con un médico que esté especialmente entrenado para detectar y tratar desórdenes degenerativos retinianos. Los asesores genéticos son un excelente recurso para hablar sobre heredabilidad, planificación familiar, pruebas genéticas, y otros temas relacionados.
Viviendo con la Enfermedad
Hay muchos servicios y recursos de asistencia y adaptación disponibles para las personas y familias con RP. Visita las páginas Living and Thriving de la Fundación para aprender sobre muchos de estos recursos. Un especialista en visión baja puede ayudar a recomendar los recursos que son adecuados para ti.
Más información sobre cómo manejar RP en la sección Newly Diagnosed de este sitio web.
Prueba Genética
Está disponible la prueba genética para RP. Ayuda a evaluar el riesgo de pasar el desorden de un padre a su descendencia. También ayuda a obtener un diagnóstico preciso. Un paciente con un diagnóstico preciso está en mejor posición de entender qué enfoques de tratamiento emergentes y pruebas clínicas son más apropiados para él o ella.
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