Una de cada 80 personas es portadora de un gen que puede causar retinosis pigmentaria

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En noviembre de 1987 Begoña Gómez fundaba la Asociación de Afectados de Retinosis Pigmentaria de Euskadi, una enfermedad que suele hacer su primera aparición en personas de entre 25 y 40 años, de origen congénito en la mitad de los casos. Los primeros síntomas son la ceguera nocturna, la lenta capacidad para adaptarse a la oscuridad y la pérdida progresiva del campo visual hasta formar una visión en túnel o cañón de escopeta. Quien padezca alguno de estos síntomas debe acudir inmediatamente a su oftalmólogo para recibir un diagnóstico.

Veinticinco años después de su creación, la asociación aún sigue siendo necesaria «ya que las personas que la padecen piden respuestas; quieren saber cómo se desarrollará la enfermedad, cómo les afectará a su vida», explica su actual presidenta Begoña Urtzaga. «La retinosis pigmentaria es la causa de degeneración hereditaria de retina más frecuente. Se produce por degradación y apoptosis [muerte programada] de los fotorreceptores [bastones-campo periférico], afectando en las fases finales a los conos [visión central], provocando ceguera en un grupo importante de los casos. La retinosis pigmentaria es una dolencia sistémica y no oftalmológica», añade.

infradiagnosticada Esta patología es congénita y en más de la mitad de los casos es heredada. La forma de transmisión dominante puede ser recesiva o ligada al cromosoma X, variando, según cada caso, la posibilidad de transmitirla. «Ha sido una dolencia que hasta hace poco ha estado mal diagnosticada. Afortunadamente esto ha mejorado y ahora es frecuente que se detecte en niños. Además, se puede establecer el diagnóstico en la población de riesgo antes de que comiencen a manifestarse los primeros síntomas clínicos», apostilla Urtzaga. La realidad es que una de cada ochenta personas es portadora de un gen que puede causar retinosis pigmentaria, una de las denominadas enfermedades raras, ya que afecta a una de cada 3.500 personas.

Desde la creación de esta asociación en Euskadi -la primera del Estado español- las perspectivas de futuro en cuanto a calidad de vida de los pacientes que padecen esta dolencia congénita ha cambiado sustancialmente. Lo ha hecho para bien. Sin embargo, no todo ha sido un camino de rosas. «El avance terapéutico que supone el tratamiento desarrollado por el equipo de investigación de la asociación, encabezado por el doctor José María Cela y la bióloga Ainhoa Angoitia, supone un freno para la degeneración producida por la enfermedad, y la mejora de la función visual perdida en los últimos años de su evolución, pero el trayecto hasta contar con un tratamiento ha sido largo y duro», reconoce.

El doctor Cela lleva dos décadas trabajando en la búsqueda de una terapia para esta patología. «Es responsable del desarrollo clínico del Retriacyl. En 2003 también avanzó los primeros suplementos en el mercado para su uso en oftalmología con DHA», añade. Además, Cela es colaborador de la Asociación de Afectados de Retinosis Pigmentaria de Euskadi desde 1993 y ha finalizado destacados desarrollos de investigación clínica con éxito, obteniendo el doctorado con el tratamiento de la Retinosis Pigmentaria con una formulación de DHA por su investigación clínica realizada en los años 90. «Ha sido también el primero en el mundo en desarrollar un fármaco a base de DHA eficaz en el tratamiento de enfermedades degenerativas de retina», señala Urtzaga.

el daño emocional Con la intervención terapéutica se logra prevenir la mayor consecuencia de la enfermedad: la ceguera, y mejorar su función visual. Del mismo modo se reducirá el daño emocional que provoca dicha enfermedad ya que quien la padece normalizará su vida social, familiar y personal. «A pesar de todo, aún seguimos peleando por el permiso definitivo de venta del producto. Es un proceso largo y costoso», añade la presidenta de la Asociación, que no padece la dolencia, aunque sí la sufrieron su padre, su abuela y seis familiares más. Los pacientes que acuden a la asociación buscan apoyo jurídico y psicológico distinto al que pueden ofrecerles en entidades como la ONCE, «que realiza una extraordinaria labor, pero la asistencia que precisan estos pacientes es totalmente distinta a la de una persona que se va a quedar ciega. Nosotros tenemos que ayudarles a cómo mantener su visión en condiciones», remacha Urtzaga.

Fuente: retinosispigmentaria.org

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