How does Marfan syndrome affect the eyes?

What is Marfan syndrome?

Marfan syndrome is a genetic condition that causes abnormal development of the body’s connective tissue, the network of tissues that supports, connects and provides structure throughout the body. When the connective tissue is flawed, it can affect the growth and form of the eyes and many other areas of the body.

“Marfan” comes from the French pediatrician Antoine Marfan, who first described it in a young patient in 1896.

Some parts of the body that Marfan syndrome can impact include:

• Joints and bones
• Blood vessels
• Skin
• Heart
• Lungs
• Nervous system
• Eyes

The condition is often inherited from a parent who has it. It is an autosomal dominant disorder, which means a parent with the condition has a 50% chance of passing it to each child.

Marfan syndrome is caused by a mutation in the fibrillin-1 (FBN1) gene, which affects the body’s connective tissue. While this mutation is often passed down from parent to child, it can also occur randomly in some cases.

Symptoms and signs

Marfan syndrome can affect the body in several ways, from skeletal development to eye problems. Some common symptoms and signs include:

• Noticeably thin and tall stature, with an arm span that stretches longer than one’s height
• A long, narrow face, high-arched palate and crowded teeth
• Slim, long fingers and toes
• Indented or protruding breastbone
• Curved spine
• Heart murmurs and other cardiovascular issues

The most serious cardiovascular concern is enlargement of the aorta (aortic root dilation), which can lead to aortic dissection if untreated. It is recommended to have regular echocardiogram (EKG) monitoring.

Causes

Marfan syndrome is caused by a genetic mutation, particularly in the FBN1 gene. This mutation interferes with the production of fibrillin-1 protein, which is a vital protein for healthy connective tissue. As a result, connective tissue can develop abnormally in several parts of the body. Approximately 1 in 3,000 to 5,000 are born with the condition.

Up to 75% of Marfan syndrome patients inherit the disease from a parent who has it. The remaining 25% of patients develop Marfan syndrome due to a spontaneous genetic mutation. It’s rare to develop Marfan syndrome randomly, though. The chance of getting Marfan syndrome spontaneously is about 1 in 20,000 people.

Marfan syndrome and the eyes

When connective tissue doesn’t develop properly, numerous problems can occur. When it comes to the eyes, the abnormal connective tissue can affect the lens (focusing structure in the center of the eye), cornea (clear, dome-shaped outer layer on the front of the eye) and the length of the eye.

When these parts of the eye are affected, it can cause problems directly related to each of them:

• Lens problems – May include cataracts (clouding of the lens) and ectopia lentis (dislocated lens).
• Cornea issues – May include thinning of the cornea or a flattened corneal curvature.
• Retina problems – May include retinal detachment or tears.
• Eye length concerns – May include refractive errors (nearsightedness or farsightedness) that occur when the eye is too long or too short.

Aside from these, additional eye conditions may be present with Marfan syndrome.

Eye conditions linked to Marfan syndrome

A number of eye conditions and symptoms are associated with Marfan syndrome, including:

• Ectopia lentis (dislocation of the eye’s natural lens)
• A gray or bluish tint in the white part of the eye (sclera)
• Eyes that are widely spaced apart
• High myopia (nearsightedness)
• Astigmatism
• Retinal detachment
• Flattened corneal curve
• Corneal thinning
• Strabismus (crossed eyes) or amblyopia (lazy eye)
• Cataracts (often early-onset)
• Glaucoma

Even though Marfan syndrome occurs at birth, these ocular manifestations (ways the eyes are affected) may not develop until later in life. Contact your eye doctor if you notice any eye-related symptoms or changes in your vision.

Complications

The symptoms mentioned above can occur as a direct result of Marfan syndrome, and for some, they can be long-term problems. This can make vision difficult and complicated in different ways for the patient, and treatment options may vary.

One of the hallmark indicators of Marfan syndrome is a condition called ectopia lentis, in which the lens of the eye is dislocated. Ectopia lentis affects the patient’s visual acuity (visual clarity). It’s found in approximately 50% to 80% of Marfan syndrome patients and is one of the earliest clues that Marfan syndrome is present.

What is ectopia lentis?

The majority of patients with Marfan syndrome have a condition in which the lens of the eye is dislocated (known as ectopia lentis). The lens is the part of the eye that focuses light onto the retina, which in turn allows a person to see objects before them. But if the lens is dislocated, this could reduce visual acuity.

Ectopia lentis occurs if the connective tissue that keeps the lens in place becomes too weak. In some cases, the lens dislocation happens slowly over time. Problems with vision arise when the lens zonules — the fibers that hold the lens in place — weaken, allowing the crystalline lens to shift out of position. When this happens, it changes the part of the lens we focus through and causes blurred vision. In more extreme cases, the lens can sag enough to where it requires surgical intervention.

Aside from other symptoms, ectopia lentis is one of the primary signs of Marfan syndrome and is often a large part of the diagnosis.

Diagnosis and genetic testing

Since ectopia lentis is a characteristic part of the disease, it’s not uncommon for an eye doctor to discover Marfan syndrome in patients who have ectopia lentis. Ectopia lentis and other lens problems are detected through a slit lamp exam conducted by an eye doctor during a comprehensive eye exam.

If the eye doctor believes there are signs that suggest Marfan syndrome, they will refer the patient to additional doctors for more testing. It’s important to see a variety of health care providers for Marfan syndrome because it affects many parts of the body. And since it affects the eyes in many different ways, comprehensive eye exams are very important, especially for children who have the disorder.

Treatment

The treatment for eye problems caused by Marfan syndrome depends on what condition (or conditions) are present. While some people need corrective lenses for their vision, others may need surgery or other procedures to treat a more serious condition.

Surgical interventions

Surgical procedures may be needed to treat Marfan syndrome-associated conditions, such as:

• Cataracts
• Severe ectopia lentis
• Retinal detachment
• Severe refractive errors
• Glaucoma

Not every case requires surgical intervention. Eye surgery can also pose a risk for Marfan syndrome patients, as the connective tissue is weaker in the eyes.

Other treatments

Additional treatments for Marfan syndrome patients may include:

• Corrective lenses – May be used to treat vision problems, such as high myopia, astigmatism, strabismus or amblyopia, in many cases.
• Medication – May be prescribed for conditions, such as glaucoma.
• Eye drops – Certain types may be used to make the pupil larger and treat vision problems that come with a dislocated lens. For some, an eye doctor may still suggest removing the lens altogether.

Lifestyle and management tips

Your eye doctor will determine the appropriate course(s) of treatment for any eye-related problems that are experienced with Marfan syndrome. In many cases, it is best to seek treatment as early as possible to reduce and/or prevent further damage. Eye doctors generally recommend comprehensive eye examinations to monitor vision and eye health, often on a yearly basis.

There is no cure for Marfan syndrome, but the majority of secondary conditions can be monitored and managed to enhance quality of life.

Ongoing management typically involves several components, coordinated across your care team:

• Eye care – Regular comprehensive eye exams to monitor for ectopia lentis, refractive changes, retinal detachment, glaucoma and early cataracts. The recommended frequency depends on individual findings.
• Cardiovascular monitoring – Echocardiograms (often annual, or more frequent if changes are detected) to track the size of the aorta, along with medication such as beta-blockers or angiotensin receptor blockers in many cases.
• Skeletal monitoring – Evaluation for scoliosis, kyphosis (excessive forward curve of the spine) and chest wall changes, particularly in growing children and adolescents.
• Activity modifications – Care teams often advise patients to avoid contact sports, certain exercises (such as heavy weightlifting) and activities that involve rapid changes in pressure to reduce strain on the aorta and weakened connective tissue. Specific recommendations can vary by the person.
• Genetic counseling – Useful for family planning and for evaluating first-degree relatives, who may also carry the FBN1 mutation.

Patients are typically encouraged to discuss their care plan and any new or changing symptoms with their care team.

Recent research and developments

Researchers continue to study how FBN1 gene mutations specifically affect the eye versus other body systems. In a National Eye Institute (NEI) study, they used animal models to understand how loss of fibrillin-1 disrupts the zonular fibers that anchor the lens, providing targets for future treatment.

More recent eye research has explored how different FBN1 gene types influence axial length (the front-to-back measurement of the eye) growth and intraocular lens selection in patients undergoing surgery for ectopia lentis. Other studies have looked at refractive correction strategies in Marfan syndrome.

Active investigation is ongoing across gene therapy, surgical technique and pharmacologic approaches to slow aortic disease — though no treatment yet exists that addresses the underlying connective tissue defect.

You can discuss current options and any new developments with your eye doctor and other members of your care team.