Mapleboy Dissertation

La retinosis pigmentaria es una enfermedad genética que engloba a un conjunto de enfermedades crónicas y degenerativas que afectan a la retina provocando la apoptosis de los fotorreceptores, inicialmente de los bastones (retina periférica) y, en fases avanzadas, también de los conos (retina central). El principal signo de la enfermedad es la presencia de depósitos oscuros en la retina.
Aparece de manera silenciosa y lenta en ambos ojos, y se tarda en acudir al especialista una media de 15 años desde que se inician los primeros síntomas de ceguera nocturna.

La edad de aparición es clave para su desarrollo, siendo más común entre los 25 y los 40 años. También se dan casos en menores de 20 y, menos frecuentemente, en mayores de 50.
Se puede estimar que existen en España 25.000 personas afectadas.
Existen varias formas de heredar la enfermedad, ya que, son muchos los genes que pueden provocarla, pero sólo en un 50% de los casos existen antecedentes familiares de ceguera o de grave pérdida de función visual. No obstante, existen factores ambientales que pueden favorecer o afectar a la progresión de la misma.

Síntomas inciales:
-Ceguera nocturna (dificultad de adaptación en condiciones de poca iluminación).

-Pérdida de campo periférico o visión en túnel.

Síntomas avanzados:
-Disminución de la agudeza visual.

-Fotopsias (destellos de luz)

-Dificultad en la percepción de colores y disminución del contraste


-Ceguera

Por suerte, menos del 25% de la población afectada, con una edad media de 47 años, sufren de ceguera total.
Pero algo muy curioso de esta afección es que la pérdida grave de visión no afecta a todas las personas por igual, incluso dentro de la misma familia, la enfermedad no tiene porqué tener un desarrollo similar.
A mayores, los pacientes con esta patología tiene riesgo de sufrir complicaciones tales como cataratas prematuras o edema macular.

En cuanto al tratamiento, a día de hoy no se conoce ninguno eficaz. Los mayores esfuerzos se centran en la posibilidad de un trasplante de retina pero, actualmente, no es posible debido a la complejidad del sistema ocular, pero se siguen realizando ensayos y pruebas en busca de una solución factible.
El uso de gafas de sol para proteger la retina de la luz ultravioleta puede ayudar a preservar la visión.

Ahora nos gustaría dejaros unos links que pueden ser de vuestro interés y qué, quizás, aporten algo nuevo a nuestro punto de vista:

Cómo es la visión de una persona con Retinosis Pigmentaria:

Cómo afecta esta patología en el día a día:

Blogpatologia ocular, retinosis pigmentaria. permalink.

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