Stargardt disease. Has anyone’s dc/young adult been diagnosed with this?

[Nevergiveuponyourdreams]

From the age of 14 my now 29 year old ds has complained of vision problems. The first ophthalmologist sent him for an MRI but when that came back clear just prescribed glasses that didn’t really do much to help. Roll on the end of Uni and he was told vaguely by an opticien that he had some pigmentation on his macular but never said anymore or referred him on. Finally, following a nasty incident playing ice hockey and suffering from severe concussion I got him to get a referral to an eye hospital. He was seen and tested and was told that he had Stargardt disease, would become severely visually impaired.

Has anyone here had their dc diagnosed with the same? He’s asked his GP for a referral to Moorfields as I’ve seen there are 3 specialists who specialize in this.

Any help and any ideas most gratefully received.

i know somebody with this and Moorfields is absolutely the place to go. Insist on a referral there. The woman I know was diagnosed as a child and still has some sight in her late 40s, she has had to adapt but is working and ok. It’s a progressive disease I believe and hereditary but Moorfields can advise further

There was a thread on this recently. I hope it will be helpful to you.

https://www.mumsnet.com/talk/generalhealth/5002965-diagnosed-with-macular-dystrophy-does-anyone-have-any-knowledge-experience-with-eyes-and-to-talk-me-down-a-bit-im-freaking-out-massively?reply=133366600

Hi OP. I have Stargardts - I was only diagnosed at 52 but my sister was diagnosed at 13 - we both have good eyesight still (can drive etc). However, I know a lot do lose their central vision. Highly recommend Moorefields - they can give good advice. There is also a Uk Facebook group (search "stargardts") with lots of good info. It's a lot to take in but easier to cope with more information.

Thank you @DGPP @ShrubRose & @meetbenson for your replies.

Ds saw his GP yesterday who seems very pro-active and willing to help him. She is referring him to Moorfields, also for genetic testing , to a low vision specialist locally and is thankfully very willing to help him. He sadly received not very good care from the eye hospital that diagnosed him. They didn’t even have a leaflet about it.

I’ll check out the the fb group and the link and pass that on to him.

@meetbenson did you and your sister have genetic testing? I agree that one needs to have as much information as possible after what is a life changing diagnosis.

Many thanks again for taking the time to reply.

@Nevergiveuponyourdreams I have had the blood test for the genetic analysis but I'm still waiting for results - it takes 12 months! My sister hasn't been tested as she was diagnosed before the test existed and now lives in another country.

I'm glad you are getting good support.