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, which is the structure inside the body that holds everything together. When the connective tissue is flawed, it can affect the growth and form of many different areas of the body.
“Marfan” comes from the French pediatrician Antoine Marfan, who discovered the condition in 1896.
Some parts of the body that Marfan syndrome can impact include:
Joints and bones
Blood vessels
Skin
The heart
Lungs
Nervous system
Eyes
The condition is often inherited from a parent who has it. It is an autosomal dominant disorder, which means only one parent needs to have the condition for the disease to be passed on to the next generation. Marfan syndrome can also occur randomly in some cases.
Causes
Marfan syndrome is caused by a genetic mutation — particularly in the FBN1 gene. This mutation interferes with the fibrillin-1 protein in the body’s genetic makeup, which is a vital protein for connective tissue. As a result, connective tissue can develop abnormally in several parts of the body.
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.
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
Slim, long fingers and toes
Indented or protruding breastbone
Curved spine
Heart murmurs and other cardiovascular issues
How does Marfan syndrome affect the eyes?
A number of eye conditions and symptoms are associated with Marfan syndrome, including:
Ectopia lentis (dislocation of the eye’s natural lens) — this is discussed in more detail below
A gray or bluish tint in the white part of the eye (also called blue sclera)
Eyes that are widely spaced apart
Flattened corneal curve
Corneal thinning
Strabismus (crossed eyes) or amblyopia (lazy eye)
Early onset cataracts
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.
If you believe you may have Marfan syndrome, be sure to monitor your health and consult your primary care provider for assessment.
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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.
A major indicator of Marfan syndrome is an eye condition called ectopia lentis. It is found in most 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, it can affect visual acuity (visual clarity) and cause vision to worsen.
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.
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
Since ectopia lentis is such a significant part of the disease, it’s not uncommon for an eye doctor to discover Marfan syndrome in patients. 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 healthcare providers for Marfan syndrome since it affects so many parts of the body. And since it affects the eyes in many different ways, routine 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 procedures may be needed to treat conditions such as cataracts, severe ectopia lentis or retinal detachment. Severe refractive errors may also require surgical correction.
Corrective lenses can be used to treat vision problems such as high myopia, astigmatism, strabismus or amblyopia in many cases.
Eyeglasses and eye drops designed to make the pupil larger are used to treat vision problems that come with a dislocated lens. For some, an eye doctor may suggest removing the lens altogether.
Various treatments are available for conditions such as glaucoma, including surgery and medication.
Your eye doctor will determine the best 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. Vision should be monitored closely and checked on a yearly basis, or as needed.
There is no cure for Marfan syndrome, but most secondary conditions can be monitored and managed to keep a strong quality of life. Regular comprehensive eye exams, skeletal health monitoring, annual echocardiograms, and some lifestyle changes are all things that must be considered to do so.
Don’t hesitate to speak with your doctor if you have any symptoms of Marfan syndrome or any other concerns about it if you are an existing patient.
Marfan syndrome. American Association for Pediatric Ophthalmology and Strabismus. April 2020.
What Is Marfan syndrome? American Academy of Ophthalmology. March 2022.
Marfan syndrome and the eye clinic: from diagnosis to management. SAGE Journals. November 2021.
Marfan syndrome. The Marfan Foundation. Accessed August 2022.
Page published on Wednesday, August 24, 2022
Medically reviewed on Tuesday, August 16, 2022
