u/ObsoleteOtter

I’ve gotten different diagnosis in my time of becoming legally blind. When I was first diagnosed in 2016, they said probably Cone Rod Dystrophy. But then I got DNA testing and he mentioned it might be Retinitis Pigmentosa; but the last time I went he’s leaning towards Stargardt’s now.

One thing is for certain that it is from the mutation of the ABCA4 gene so that’s what’s written on my medical report “disease caused by mutation of ABCA4 gene” I can’t take any supplements with Vitamin A or eat too much Vitamin A.

When I read about the symptoms of each, Stargardt’s seems to match up the most with my symptoms. Because I am colorblind he thought RP, but people in my family are colorblind without being legally blind like me so I don’t agree with RP. Some of the symptoms don’t match up with me like seeing worse at night, I see better at night.

He did say they’re all under the same umbrella so don’t get hung up on a diagnosis. But it’s not that I’m hung up, I just want to know what to say to people when they ask, what to say to my family, doctors, the government… it would be a lot easier to just say one term.

How did you get your definitive diagnoses of Stargardt’s? Was it right away or did it take a long time?