Pseudoxamthoma Elasticum

I'm 29 years old and have had 27 lucentis injections.

It started about 2 years ago when I was having flashing lights in my peripheral visions. It had turned into 2 large blind spots in both eyes.

I've seen every kind of doctor and have done every kind of test available to try and diagnose what's going on in my eyes. There is fluid and blood leaking around my optic nerve.

The retinal specialist feels that its pseudoxamthoma elasticum accompanied by angoid streaks.

Family doctor referred me to a genetic specialist and they declined the referral because they feel due to my workup I can't have that disease. Does anyone have symptoms like this and received any answers?

Thanks,

Steph

5 Replies

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  • Hi steph, sending you a hug, you have had a lot to deal with at such a young age x

    Have you rung the Macular Society? I'm sure they could advise you about getting a second opinion etc

    0300 3030 111

    Their website has lots of info on conditions incl genetic ones.

    Best wishes to you going forward x

  • Dear Stephcosta,

    I am sorry to learn of your eye problems and your steps to try and get a confirmed diagnosis and treatment. There is information on the Macular Society website about Juvenile Macular Dystrophies, and P9 has a section on PXE which you may find helpful. We also have a fact sheet on Genetics on the website.

    I wonder who and where your retinal specialist is that you have already seen. If you ring us on the Macular Society helpline we may be able to help you locate another specialist in your locality if you want to consider a second opinion.

    Please do not hesitate to contact the helpline if you would like to discuss your concerns further.

    Our helpline is open 9am – 5pm Monday to Friday on 0300 3030 111

    or you can contact us via

    help@macularsociety.org

  • Goodness, I'm so sorry to hear all the run a round for you and still no answers. I pray you find the right Dr. soon to help give you a diagnosis so you can get treated properly

  • Hi Steph, If you are interested in meeting other people in similar positions to yourself the Macular Society also runs w @ m (working age) support groups. Members vary in age from 20's to 60's and a large percentage have a range of inherited macular conditions, lots that have taken a long time to diagnose because of the rarity and complexity. Details of local groups are on the website. Good luck x x

  • Thank you very much! I really appreciate the response, I'll absolutely be checking it out.