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.
Yes, it definitely happens—routine eye exams can sometimes be the first step in spotting rare eye conditions. Opticians are trained to notice subtle changes in the retina or optic nerve that might not cause obvious symptoms at first, and referral to a specialist is usually the next step.
I’ve heard of cases where conditions like Stargardt disease, retinal dystrophies, or even glaucoma were first picked up during a standard eye test. It can feel overwhelming at the start, but getting an early referral is actually a positive, as it means you’ll have a clearer path to diagnosis and management.
I can relate to your experience, as many rare eye conditions are first spotted during a routine eye exam. Optometrists often notice subtle retinal or optic nerve changes before symptoms appear. In my case, a standard test revealed unusual patterns, leading to specialist referrals, OCT scans, fundus photography, and eventually genetic testing. It turned out to be an inherited retinal condition, which was overwhelming at first but helpful to know early.
From what I’ve learned, conditions like Stargardt disease, retinitis pigmentosa, and other macular dystrophies are often detected this way. If you’re still in the diagnostic stage, asking for a referral to a retinal specialist and considering genetic counselling can be valuable, along with connecting to communities that share practical advice and encouragement.
Yes, one of my friends actually had early signs of glaucoma first noticed during a routine eye exam. They had no symptoms at all, but the optometrist caught the pressure changes early. It really showed me how important regular eye exams are—you never know what could be spotted before it turns serious.
Yes, actually! My brother's rare eye issue was first spotted during what he thought would be a routine exam too. He went in expecting a simple prescription update, but the optometrist noticed some changes in his retina and referred me on. After more tests, he was diagnosed with a genetic retinal condition.
What really stood out to me was how important regular eye exams are, you don’t always notice the early signs yourself. The process of getting a clear diagnosis took a bit of time and felt overwhelming at first, but having it caught early gave me options for managing it better.
, I am so glad you chimed in here! I think you brought up a great point about keeping up with those regular eye exams. I hope your brother is doing okay and that his eye health is being protected as much as possible.
Best, Erin, Team Member.
