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Anyone Had a Rare Eye Condition First Spotted During a Routine Eye Exam?

I recently went in for a standard eye test, thinking I needed a new prescription, but the optician noticed something unusual. I was referred for further tests, and now the doctors suspect it might be a rare retinal condition, possibly something genetic like Stargardt or another inherited issue.

It made me wonder if anyone else has had a rare eye disease first picked up during a regular exam. I’d love to hear about your experience, how it was caught, the diagnosis process, and how you’ve managed since.

  1. Hi, !

    I know a few of our members have been diagnosed following an eye exam, but some of them were experiencing issues that led them to schedule an eye appointment, so I don't know if you would count that as a regular exam. Here's one conversation from our forums on the topic of eye exams and eye symptoms leading to diagnosis -- https://raredisease.net/forums/recognizing-the-symptoms-of-eye-conditions. Also, we have a sister site dedicated specifically to one rare eye disease (Thyroid Eye Disease) and I wanted to share a member piece from that site that I thought you might find interesting -- https://thyroideyedisease.net/living/self-talk. Managing any rare condition can definitely be a challenge, but it is doable. I do hope other community members see your post and chime in here with their experiencings being diagnosed and treating eye conditions.

    Best, Erin, Team Member.

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