Marfan Syndrome and the Eye

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If you haven't heard the news, NBA prospect Isaiah Austin (who was featured here in our post about
NCAA March Madness) was faced with the devastating diagnosis that he is no longer able to pursue his dream of becoming a professional basketball player.  On Sunday, the star who had already overcome blindness in one eye after a retinal detachment in high school was diagnosed with Marfan Syndrome.  It leaves many people wondering, how did it take so long for his potentially life threatening condition to be diagnosed?  Luckily an eye exam is a very common place for the initial suspicion for Marfan Syndrome to arise.  Here are some warning signs that every optometrist is looking for during a routine exam:

1) Displaced Lens

A displaced lens is easy to spot after dilation.  In acute cases it is typically symptomatic (like after an eye injury), but in Marfan Syndrome the patient is typically a child, and may have developed the displaced lens very young in life so they might not necessarily have visual complaints.  via

Far and away the most common ocular finding consistent with a diagnosis of Marfan Syndrome is ectopia lentis, or a displaced lens.  Nearly 60% of people with Marfan Syndrome will also have a displaced lens in either one or both eyes.  Lens dislocation is a result of anomalous lens zonules (the fibrous connections that hold the lens in place behind the iris), and in Marfan's is most likely dislocated superior temporal in direction.  Lens dislocation can be asymptomatic, but it can also cause double vision or distortion in 1 eye.  A dilated examination is the best way to observe lens dislocation.  A displaced lens can also increase the risk for glaucoma, making routine eye exams even more important. Another change that can commonly be seen in the lens is early cataract formation.  In most people, cataracts are a normal aging change that will begin developing around 60.  In those with Marfan's, cataracts may develop much younger in life.  

2) High Amounts of Myopia

Marfan Syndrome is a genetic anomaly of the connective tissue of the body, and the length of the eyeball is an area where this can often manifest.  People with Marfan's are typically quite tall, with long fingers and limbs.  Their eyes are also typically much longer in axial length than average, resulting in highly near sighted prescriptions.  These high prescription can be associated with other ocular issues like amblyopia (lazy eye) and strabismus (eye turn), as well as an increased risk for retinal tears and detachments due to the excessive stretching of the retinal tissue over the elongated globe.  The signs and symptoms of a retinal detachment are an ocular emergency, so a patient with Marfan's should be well aware of what to look for:

• flashing lights
• a veil or dark curtain falling over the vision
• a ton of new floaters or large floaters

Call your eye doctor immediately if you are having these sudden symptoms.  Retinal detachments are painless, so you are relying completely on sudden visual changes to alert you to the issue.  People with high prescriptions or other risk factors for retinal tears should wear protective glasses when in high injury risk environments (like playing sports).

3) Difficulty with Contact Lenses Due to Anatomy

In addition to the common associates above, several contact lens-related observations during a routine exam can be suspicious for Marfan Syndrome.  The patient will typically have a flat cornea but a high prescription (meaning a very long eye ball is the cause of their nearsightedness), and this flat cornea can make contact lens wear difficult.  They can also have larger than average corneal size and diameter, and can have sunken eyes (enophthalmos) with a small palpebral (or eyelid) opening.  These features: flat cornea, sunken eyes, and large corneas can make fitting the patient with contact lenses very challenging and can be a red flag to your eye doctor to consider ordering testing for the condition in the presence of other common hallmarks.

Why is Marfan Syndrome Important to Diagnose?

The inherent risk in patients with Marfan's is for cardiovascular malformations that could result in death. Heart conditions can make playing sports or activities with high demand too dangerous, and in the case of Isaiah Austin an EKG heart screening during his NBA workouts revealed the malformation in his heart that spurred the genetic screening test that confirmed diagnosis.  In any patient with a dislocated lens, Marfan Syndrome is on the top of potential associated causes, and is the finding that your eye doctor will be looking for even in young children.

I truly encourage all parents, especially if your child is an athlete, to take your child for a comprehensive ocular examination.  During the course of the exam, more than just vision is going to be assessed.  The health of the eye can be so telling for systemic and genetic overall health conditions, and a trip to the eye doctor might even help save a life!