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Keratoconus Expert – Talking to Patients About the Cause of Keratoconus

A picture of a family walking.

At one point or another in the course of treating keratoconus patients, clinicians often learn that there is a family history of the condition. In most cases, patients only learn about a family history after sharing the news of their own diagnosis with those closest to them. While the exact cause of keratoconus is unknown, it is believed that genetics do play a role.

Studies indicate that about 10% of keratoconus patients have affected relatives. According to research, patients with a parent, sibling, or child who has keratoconus have 15 to 67 times higher risk in developing corneal ectasia compared to patients with no affected relatives. 1, 2 Although there is currently work being done to understand what genes are responsible for keratoconus and how they are transmitted from parent to child, right now research is inconclusive on whether there is specific genes, that causes keratoconus.

How best to discuss and educate patients about the genetic component of keratoconus depends on their personal experience with or knowledge of the condition. It is important for clinicians to ask about family history and if the patient knows anything about their loved ones’ eye health.

Past, Present, and Future

Although regular, annual annual eye exams should be encouraged for everyone, those with an increased risk factor due to family history, or potential early symptoms of the condition, may require more frequent screenings.

In addition, common environmental or lifestyle conditions may contribute to the condition. A patient’s exposure and susceptibility to allergens or other environmental factors is one element. These environmental factors can then lead to increased eye rubbing. Many experts agree that eye rubbing is often associated with keratoconus and can either contribute to the progression of the disease or negate the efficacy of cross-linking or corneal transplants.

Family history may indirectly impact the patient’s understanding of the condition and the available treatment options. Knowing about a family member’s experience with specialty contact lenses, iLink™ FDA-approved cross-linking, or corneal transplant may make them either eager —or hesitant— to consider and potentially pursue a certain treatment path.

For many patients understanding how the genetics of keratoconus may impact other members of their family in future generations, including their children, is extremely important. This often leads to many questions about how and when they should have their children screened, warning signs to look for, and what the treatment options are currently— or may be in the future— should their children eventually be diagnosed.

We recently spoke with Dr. Sam Garg of UCI Health who shared his thoughts on the genetic component of keratoconus and what he tells his patients about the connection:

Picture of Dr. Sam Garg.

Is there a recommended age you tell parents with keratoconus when they should start having their children screened? Why is early detection of keratoconus so important?

Children with a family history of keratoconus should generally undergo screening evaluation before they hit 13, but this is not a one and done type diagnosis. Sometimes it requires following the patient for a bit of time to determine if they do or do not have the condition.

Is it important for the children of patients with keratoconus to visit the same doctor as them and/or the same doctor over time?

It is best for children to be examined on the same machine at the same office over time, because tools really can be calibrated differently. When diagnosing keratoconus or the progression of the condition, we are measuring a micron level of difference. To the lay people, the corneas may appear the same, but to experts they are vastly different.

Picture of two people smiling.

What else would you share with an anxious patient concerned about their child having keratoconus?

I would share that, in general, keratoconus is a slowly progressing disease for which our options for treatment are really good. FDA-approved cross-linking is safe and effective. Once a patient is cross-linked, they have even more options as our colleagues in the contact lens space are doing really great work. I would tell them that those diagnosed with keratoconus are better off now than they were five years ago — and 10 years from now you’re going to be even better off because of increased insurance coverage and new research.

For more information on keratoconus and iLink FDA-approved cross-linking, follow us on Twitter, Facebook, and LinkedIn.

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 judgement. The company does not recommend or endorse any particular course of treatment or medical choice.

1 Fecarotta CM, Huang WW. Pediatric genetic disease of the cornea. J Pediatr Genet. 2014;3(4):195–207. doi:10.3233/PGE-14102

2 Wang Y, Rabinowitz YS, Rotter JI, Yang H. Genetic epidemiological study of keratoconus: evidence for major gene determination. Am J Med Genet. 2000;93(5):403–409

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]

Indications

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 www.livingwithkeratoconus.com to obtain the FDA-approved product labeling.

You are encouraged to report all side effects to the FDA. Visit www.fda.gov/medwatch, 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.

Reference

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