Raising Awareness of Keratoconus in the Down Syndrome Community

Eye disease is reported in over half of patients with Down syndrome.

Each year, approximately 6,000 babies are born with Down syndrome, and some form of an eye disease is reported in more than 50 percent of the patient population. Fortunately, these vision issues can often be treated if they are detected early. For this reason, it is recommended that children with Down syndrome, even if they are without symptoms, should see an ophthalmologist every one to two years, sometimes even more frequently. As a physician, you can help further educate parents and raise awareness of any common, or even uncommon, eye conditions that may develop in this patient population.

What many people don’t know is that research shows 5-15% of people with Down syndrome are affected by keratoconus. With enhancements in diagnostic tools and increasing awareness of keratoconus, more patients are being diagnosed earlier and more accurately. While you may be monitoring these patients closely, parents and caregivers should also be aware of keratoconus and its high prevalence in this population, especially since their loved ones may have difficulty communicating any changes in their vision.

To help raise awareness, we’re discussing diagnosing and treating keratoconus for your patients with Down syndrome and how you can prepare your patients for necessary eye exams and iLink™ FDA-approved corneal cross-linking.

Standard Vision Testing for Patients with Down Syndrome

You can help patients with Down syndrome and their caregivers be proactive about their vision care by encouraging them to schedule regular eye exams. Closely monitoring your patients for changes to the cornea beginning in infancy and screening for keratoconus during the teen and early adult years can lead to early diagnosis.

While keratoconus can be a challenging condition to diagnose and treat, it can be managed with the proper steps. Detecting keratoconus early provides patients with a greater number of treatment options, including the chance to slow or halt the progression of the disease.

Diagnostic and Treatment Challenges

Some people with Down syndrome may not be able to communicate to their parents or doctors that they are having trouble seeing. They may also not even notice changes in their vision. As a result, parents should take note of any changes in behavior that could signal vision challenges, such as squinting or holding things close to their face in order to see.

Many caregivers of people with Down syndrome are not aware of the prevalence of keratoconus, and how it can impact an individual’s ability to function at their highest level. Often, keratoconus goes undiagnosed or even misdiagnosed, resulting in a more progressed stage of the condition. As a result, finding corrective lenses can be a challenge.

If progressive keratoconus is diagnosed, an eye care professional may then struggle to determine the best available treatment option. Historically, invasive treatments – such as a corneal transplant or grafting a cornea – were used. However, patients may want to rub their eyes after surgery, which can put the transplant and the eye at risk. Now, there are less invasive options, including iLink FDA-approved corneal cross-linking.

Jeanne Doherty, of the Massachusetts Down Syndrome Congress, discussing the challenges of getting proper diagnoses at a 2019 World KC Day celebration.

Preparing Your Patient with Down Syndrome

If your patients and their parents or caregivers are nervous about their keratoconus diagnosis, make sure you’re keeping everyone up to date on the condition, including progression, and the tests that may need to be conducted, as well as any available FDA-approved treatments they should consider. If progressive keratoconus is caught early enough, patients can be treated with iLink FDA-approved cross-linking to slow or halt the progression of the condition.

Sylvia and her daughter Sarah share why they decided to treat Sarah’s keratoconus with iLink FDA-approved cross-linking, at a 2019 World KC Day celebration.

Dr. Erin Stahl

We recently spoke with Dr. Erin Stahl, a Pediatric Ophthalmologist at Children’s Mercy Hospital Kansas City to discuss the best way to prepare patients with special needs for necessary eye tests and how to help them recover after the iLink procedure.

How can I best prepare my special needs patients to receive necessary eye tests to determine if they are living with keratoconus?

As a pediatric ophthalmologist, I am very comfortable working with pediatric patients of all abilities and levels of fear surrounding medical visits. There are a few necessary steps in achieving a good eye exam. The first is using one of many techniques to check vision. This ranges from following a lighted toy to checking vision on an eye chart. The next important step is to dilate the pupil with eye drops. After the pupils have been dilated, we use special lights and the “red reflex” from the reflection on the back of the eye to determine glasses prescription and to get a very good view of any corneal irregularities including early and late keratoconus.

If your patient has done well with these tests which are done with flashlights from about a foot away, we can move to more measurements. Using a microscope called a slit lamp we can get a close-up view of the cornea and look for scarring and subtle corneal changes, as well as signs of allergy. If the patient is comfortable with all of these tests, then we try to obtain measurements of the cornea including a topographic map (corneal topography) and corneal thickness measurements. These tests use machines that do not touch the patient and do not hurt.

In some cases, we get more information from each visit as the patient has less fear with subsequent exams.

You can best prepare your patient for these tests by telling them that they will get eye drops which will make their vision blurry. You can tell them to expect a number of different flashlights but nothing painful. Many young patients worry that they will get shots or have painful tests at the doctor. As a pediatric ophthalmologist, I have many distraction toys – lighted toys, movies, moving animals and stickers. Many think a trip to the eye doctor is pretty fun!

What is the best way to help my patients with special needs prepare for and recover from the iLink procedure?

Corneal cross-linking can cause postoperative light sensitivity and discomfort. There are many steps we can take to reduce these symptoms. In more cooperative patients, a contact lens will be placed and removed in clinic 3 days after surgery. This lens acts like a bandage and reduces pain. In more fearful patients, a dissolvable contact lens can be placed on the eye and does not need to be removed after surgery.

Gel ice packs can be applied to the eyelid after the procedure to reduce pain and can be very effective in reducing pain if the patient will allow placement. Tylenol and ibuprofen can also be helpful to reduce discomfort.

As the eye heals after the procedure, it is important that the patient does not rub their eye. We tape a clear shield over the eye and most patients leave it in place. Glasses and sunglasses can take the place of the shield if the patient prefers. We ask that the shield stay on for 3 days after surgery. It is not typical for a patient to rub the eye after surgery because it hurts more when touched.

Have a friend or family member prepare a semi-dark room for the patient to rest for 2-3 days after surgery. TVs and iPads may be too bright to tolerate during healing so music, read-aloud stories, or other activities that do not have bright lights are great to have available. Patients should stay indoors for the first few days to avoid direct sunlight. After this healing period, patients should not have persistent eye pain and typically go back to their regular activities within 1 week.

Sylvia and her daughter Sarah share their thoughts on available treatment options for Sarah’s progressive keratoconus at a 2019 World KC Day celebration.

Advocate for Your Patients

Even though keratoconus awareness is spreading, it doesn’t mean you shouldn’t be proactive in talking to your patients and their families about the condition, available treatments, and the role it has in certain patient populations. It’s crucial that your patients and their caregivers know to report any changes they notice in their loved one’s vision as soon as possible. An early diagnosis can make all the difference in your keratoconus patient’s journey!

Jeanne Doherty, of the Massachusetts Down Syndrome Congress, discussing increasing awareness of keratoconus in the Down syndrome community at a 2019 World KC Day celebration.

If you are looking for resources to share with your patients, send them to the Living with KC website. They can hear from others in the community and read their Keratoconus Journeys, as well as learn more about the condition and available treatment options. For more information on diagnosing and treating keratoconus, visit our website and follow us on Facebook, Twitter, and LinkedIn.

Dr. Erin Stahl is a paid consultant of Glaukos.

Suggestions offered by the physician are based on their experiences using the KXL® System and are their opinion. Medical decisions for your patients are to be based upon their condition and your medical judgment. The company does not recommend or endorse any particular course of treatment or medical choice.

Using Photrexa® Viscous (riboflavin 5’-phosphate in 20% dextran ophthalmic solution), Photrexa® (riboflavin 5’-phosphate ophthalmic solution), and the KXL® System, the iLink™ corneal cross-linking procedure from Glaukos is the only FDA-approved therapeutic treatment for patients with progressive keratoconus and corneal ectasia following refractive surgery.*1

[Photrexa IFU/p1/col1/para3/lines1-4]


Photrexa® Viscous (riboflavin 5’-phosphate in 20% dextran ophthalmic solution) and Photrexa® (riboflavin 5’-phosphate ophthalmic solution) are indicated for use with the KXL System in corneal collagen cross-linking for the treatment of progressive keratoconus and corneal ectasia following refractive surgery.

Important Safety Information

Corneal collagen cross-linking should not be performed on pregnant women.

Ulcerative keratitis can occur. Patients should be monitored for resolution of epethelial defects. The most common ocular adverse reaction was corneal opacity (haze). Other ocular side effects include punctate keratitis, corneal striae, dry eye, corneal epithelium defect, eye pain, light sensitivity, reduced visual acuity, and blurred vision.

These are not all the side effects of the corneal collagen cross-linking treatment. For more information, go to obtain the FDA-approved product labeling.

You are encouraged to report all side effects to the FDA. Visit, or call 1-800-FDA-1088.

*Photrexa® Viscous and Photrexa® are manufactured for Avedro. The KXL® System is manufactured by Avedro. Avedro is a wholly owned subsidiary of Glaukos Corporation.


1. Photrexa [package insert]. Waltham, MA: Glaukos, Inc. 2016