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

1.619 comentarios / Por /

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

1.619 comentarios en “Una de cada 80 personas es portadora de un gen que puede causar retinosis pigmentaria”

  6. Shelonda

    Now I am ready to do my breakfast, afterward having
    my breakfast coming again to read other news.

    My blog … Clorinda

  7. Takeya

    Right here is the right blog for anybody who wants to
    find out about this topic. You know so much its almost hard to argue with you (not that I
    really would want to…HaHa). You certainly put a brand new spin on a
    topic that has been discussed for many years. Great stuff, just excellent!

    Also visit my web site – Simran

  8. Chanique

    Undeniably believe that which you said. Your favorite justification seemed to be on the internet the simplest
    thing to be aware of. I say to you, I certainly get irked while people consider worries that they just don’t know about.
    You managed to hit the nail upon the top as well as defined
    out the whole thing without having side effect , people could take
    a signal. Will probably be back to get more.
    Thanks

    Look into my homepage … Moya

  9. Gerred

    Hello there! I could have sworn I’ve visited your blog
    before but after browsing through a few of the posts
    I realized it’s new to me. Regardless, I’m definitely pleased I found it and
    I’ll be book-marking it and checking back regularly!

    My blog post :: Lani

  10. Avinash

    Everyone loves what you guys are usually up too.
    This kind of clever work and exposure! Keep up the superb works guys I’ve
    incorporated you guys to our blogroll.

    my blog post; Nateshia

  11. Jenniferann

    You really make it appear really easy along with your presentation but I
    find this topic to be really something that I think I’d by no means understand.

    It sort of feels too complex and extremely large for me.

    I am taking a look forward for your subsequent publish,
    I will try to get the cling of it!

    my web-site – Nikea

  12. Valeriano

    Link exchange is nothing else however it is only placing the other person’s weblog link on your
    page at suitable place and other person will also do same for you.

    Check out my blog post :: Latasia

  13. Mahyar

    It’s actually a great and useful piece of information.
    I am satisfied that you shared this useful information with us.

    Please keep us informed like this. Thanks for sharing.

    Here is my site – Hashem

  14. Shakeila

    Hi there, everything is going fine here and ofcourse every one is sharing
    information, that’s truly excellent, keep up writing.

    Also visit my web blog; Tyisha

  15. Dorothea

    This blog was… how do I say it? Relevant!!

    Finally I’ve found something that helped me.
    Appreciate it!

    my blog post; Issac

  16. Maile

    Very shortly this web site will be famous amid all blogging viewers, due to it’s pleasant articles

    Here is my homepage … Donita

  17. Terea

    I like it when individuals come together and share thoughts.
    Great site, stick with it!

    Feel free to visit my web page: Darroll

  18. Makenna

    Someone necessarily help to make severely articles
    I would state. That is the very first time I frequented your website page
    and up to now? I amazed with the analysis you made to make this actual put
    up amazing. Wonderful task!

    my site … Tosca

  19. Cally

    It’s actually a cool and useful piece of information. I’m glad that you shared this useful information with us.
    Please stay us informed like this. Thank you for sharing.

    Stop by my page :: Jacklene

  20. Opal

    Hey there! I know this is kinda off topic but I
    was wondering if you knew where I could locate
    a captcha plugin for my comment form? I’m using the same blog platform as
    yours and I’m having difficulty finding one? Thanks a lot!

    my site – Markeia

  21. Jarica

    Quality posts is the main to interest the viewers to pay a visit the web site, that’s what this site is providing.

    Feel free to visit my site :: Maile

  22. Nadirah

    of course like your web-site however you have to test the spelling on several of your posts.
    Several of them are rife with spelling issues
    and I to find it very bothersome to inform the reality on the other hand
    I’ll certainly come again again.

    My web blog … Robert

  23. Allyssa

    This is the right web site for anyone who really wants to find out about this topic.

    You realize so much its almost hard to argue with you (not that I actually would want to…HaHa).
    You definitely put a new spin on a topic which has been discussed for ages.
    Excellent stuff, just great!

    Feel free to surf to my page; Clarance

  24. Hava

    I loved as much as you’ll receive carried out right here.

    The sketch is attractive, your authored material stylish.
    nonetheless, you command get bought an shakiness over that you wish be delivering the following.
    unwell unquestionably come further formerly again since exactly the same nearly very often inside case you shield this hike.

    Here is my site; Tiffanny

  25. Cesilia

    I love your blog.. very nice colors & theme. Did you create this
    website yourself or did you hire someone to do it for you?
    Plz answer back as I’m looking to create my own blog and would
    like to find out where u got this from. thank you

    Here is my blog post; Tiffney

  26. Daniel

    Heya i’m for the first time here. I came across this board and I find It truly useful & it helped me out much.
    I hope to give something back and aid others like you aided me.

    Feel free to visit my web-site … Mickey

  27. Nellie

    It’s really a great and useful piece of info.
    I am satisfied that you simply shared this useful information with us.
    Please keep us informed like this. Thank you for sharing.

    Feel free to visit my website Hannelore

  28. Jennie

    Speeding up the sound results and music in video games reminiscent of Space Invaders is also said to have a robust impression on the gaming expertise
    when performed properly. I do not know. From print music to vinyl LPs, we have
    what you might be searching for. The vast majority of phrases could be translated actually
    – that is, one can substitute each phrase in a phrase with its
    equal in another language, permitting for some change in order, gender,
    tense, etc. Other phrases have taken on meanings that are not literal
    translations of the person components and these we call ‘figurative’.
    They’ll mimic conventional instruments, and likewise produce very different sounds.
    Today, most film music composers work as independents — and have
    far much less time to complete a score, typically two months or less to produce and
    report an hour of music. The discharge of a freely-distributed Amiga program named Soundtracker by Karsten Obarski in 1987 started
    the era of MOD-format which made it easy for anyone to supply music primarily based on digitized samples.

  29. Stephen

    Greetings! Quick question that’s totally off topic. Do you know how to make your site mobile
    friendly? My blog looks weird when browsing from my apple iphone.

    I’m trying to find a theme or plugin that might be able to
    fix this problem. If you have any recommendations, please share.
    Many thanks!

    Feel free to visit my webpage: Terri

  30. Grant

    It’s nearly impossible to find well-informed people for this topic,
    but you sound like you know what you’re talking about! Thanks

    Also visit my site – Iola

  31. Maryanne

    There’s definately a lot to know about this subject.
    I really like all of the points you made.

    Here is my web page: Carmella

  32. Jessica

    It’s not my first time to go to see this web site, i am browsing this site dailly and take nice
    information from here daily.

    My site: Jefferey

  33. Rosella

    I am really inspired together with your writing skills as neatly
    as with the structure for your weblog. Is that this a paid subject matter
    or did you modify it yourself? Anyway stay up the
    nice quality writing, it’s rare to peer a nice blog like this one
    these days..

    Here is my website; Margret

  34. Tamika

    Hi there, all is going perfectly here and ofcourse every one is sharing facts, that’s really good, keep up writing.

    Also visit my web page; Garland

  35. Thaddeus

    You should be a part of a contest for one of the most useful blogs online.
    I’m going to highly recommend this site!

    Feel free to surf to my blog post Penney

  36. Earl

    I think this is among the most significant information for me.
    And i am glad reading your article. But should remark on few general things, The web site style is
    great, the articles is really nice : D. Good job, cheers

    Feel free to visit my site – Lelia

  37. Carmine

    Normally I do not read article on blogs, however I would like
    to say that this write-up very forced me to check out and do it!

    Your writing taste has been amazed me. Thanks, very nice article.

    Also visit my web-site … Steven

  552. Charlestriek

    top 10 online pharmacy in india [url=http://indiapharm.life/#]Online medicine order[/url] reputable indian online pharmacy

  564. Charlestriek

    legitimate canadian pharmacies [url=http://canadapharm.shop/#]canadian world pharmacy[/url] northwest canadian pharmacy

Deja un comentario

Tu dirección de correo electrónico no será publicada. Los campos obligatorios están marcados con *

Scroll al inicio