Sarah’s Video Series: A Story of Keratoconus, Down Syndrome, and Treatment

When Sarah was diagnosed with keratoconus in 2018, it came as a shock to her mother Sylvia. She had never heard of the condition, nor had Sarah ever complained of deteriorating vision. However, unbeknownst to her mom, Sarah’s doctor had been monitoring her for the condition for years. Sarah, a young woman with Down syndrome, was now presenting noticeable progression since her last appointment three years ago.

“When they said keratoconus, I said kerata-what? I really didn’t know what it was and had never heard of it. My initial reaction was, this is somthing else added to the list of medical issues that people with Down syndrome have to deal with. So the reaction ore was, so what do we do about it? Our opthalmologist said that you go see a cornea specialist, which we saw within about two weeks.”

Sylvia, Sarah’s mom

During their initial appointment, the eye doctor explained that 5-30% of people with Down syndrome also have keratoconus.

“One of the things that I have come to learn about Down syndrome and keratoconus is how often it goes undiagnosed to the point there’s actually a significant loss of vision. I think in part because folks with intellectual disabilities may not realize the decline in vision, or may not be able to communicate to their caregivers that they are experiencing deteriorating vision.”

Sylvia, Sarah’s mom

On World Keratoconus Day, Sylvia and Sarah sat down with us to share their story and discuss the unique challenges faced by people with intellectual disabilities. Receiving an accurate diagnosis, the importance of parents advocating for their children, and Sarah’s future aspirations now that her condition has been appropriately managed were all topics of the conversation.

To find a doctor near you to get screened for keratoconus, use our locator tool.