Optometry’s life-saving role in identifying the signs of Marfan syndrome

Of those with Marfan syndrome, approximately 8000 are believed to be undiagnosed – something the Marfan Trust is seeking to change.

For Marfan Awareness Month 2025, the charity is sharing the message: See the Signs. Save a Life to raise awareness of the signs and symptoms.

OT heard from Dr Anne Child, medical director and Chair of the board of trustees at the Marfan Trust about the role of optometrists in identifying the signs of Marfan syndrome.

How would you describe Marfan syndrome and its connection with the eyes?

Dr Anne Child (AC), medical director and Chair of the board of trustees at the Marfan Trust: Marfan syndrome (MFS) is a genetic, lifelong disorder of the body’s connective tissue. An ‘egalitarian’ condition, it affects any gender, race or ethnic group. Connective tissue helps provide structure to the body, binding skin to muscle and muscle to bone. It provides the stretchy strength of tendons and ligaments around joints and in blood vessel walls. It also supports the internal organs. This tissue is made of fine fibres and ‘glue’. One fibre is called fibrillin.

In MFS, a change in the fibrillin-producing gene, FBN-1, means that this protein is deficient in connective tissue throughout the body, creating an unusual stretchiness and weakness of tissues. It is as though the body’s scaffolding is coming undone and has far-reaching ramifications with the potential to affect the lungs, gut, nervous system, skeleton, eyes, and most life-threateningly, the cardiovascular system.

The ocular manifestations of Marfan syndrome are many. In MFS, the actual eyeball is often large or too long which prevents the light rays from focusing on the retina, causing (sometimes severe) myopia. Over 30% of Marfan patients have a dislocated lens in one or both eyes (ectopia lentis) – the lens, located at the front of the eye, has slipped out of place because the zonules are weak.

Retinal detachment is also a potential danger for Marfan patients, and can occur spontaneously. We advise people to avoid contact sport such as boxing and anything else that puts them at increased risk of this happening. Astigmatism, amblyopia and strabismus occur more commonly in Marfan syndrome than in the general population.

Glaucoma develops in about 35% of people with Marfan syndrome, and often at an earlier age than in the average person. If left untreated, it can cause blindness. Effective medication and surgery are available. Cataracts at an early age is a Marfan phenomenon. Some patients develop cataracts even before reaching 40. Surgery to replace the lens is safe and effective. Anterior chamber placement avoids the problem of weak zonules. The cornea is also thinner and flatter in Marfan patients.

The ocular manifestations of Marfan syndrome are many

What are the signs of MFS that optometrists should look out for?

AC: The ocular symptoms of Marfan syndrome are easy for optometrists to identify and recognise. Displaced (subluxed or dislocated) lenses are often the first clue to the existence of the syndrome. Only yesterday I spoke to a patient who had taken her three-year-old daughter to an optometrist and left the appointment with a referral letter to her GP, recommending that she seek genetic testing for Marfan syndrome. Her child had dislocated lenses, alerting the optometrist to the underlying possibility of MFS. Her lenses have since been surgically removed and she is coping quite happily with her ‘magic glasses.’ She is also taking beta-blockers for her enlarged aorta. This was a life-saving appointment.

Myopia is more common in Marfan syndrome owing to the increase in the length of the eye, the curvature of the lens, and the likelihood of dislocation of the lens. Astigmatism is fairly frequent as the Marfan eyeball is shaped like a rugby ball. Amblyopia and strabismus may also be signs of the syndrome, along with early-onset glaucoma and cataracts. However, the real red flag indicating something more serious is the displaced lens.

Anecdotally speaking, we have learned from many patients that a visit to the optician or optometrist was the first step on the journey to a diagnosis of Marfan syndrome.

Marfan Trust

Lucy illustrates some of the skeletal manifestations of Marfan syndrome, including height and hypermobility

What role can primary care professionals, such as optometrists, play in the early identification of the potential signs of MFS?

AC: A life-saving role. They have the power to facilitate an early diagnosis of Marfan syndrome which is critical to securing a longer, healthier life for the patient. The most serious symptom of Marfan is an enlarged aorta – the body’s largest artery which carries oxygen-rich blood from the heart to the circulatory system. In MFS it can balloon and fatally tear if left untreated. When caught early, the aortic dilatation can be monitored and controlled by medication until surgery is needed.

Sometimes, it may be that the optometrist’s patient doesn’t present with visible signs of eye health issues linked to Marfan, but instead displays the clinical features which are suggestive of the syndrome. Marfan patients often grow to excessive height and have disproportionately long limbs, long fingers and flat feet. High palate, spinal curvature and loose joints can be assessed quickly and easily. Keep Marfan syndrome in mind when meeting anyone unusually tall and slender, bearing the physical characteristics of the condition.

Asking: “Have you heard of Marfan syndrome?” could introduce the patient to the condition, with the suggestion to visit their GP to request a screening echocardiogram at their local hospital. As a medical professional, the optometrist is in a position to observe this and refer on as necessary. 

How can optometrists continue to support patients who have a diagnosis of MFS?

AC: With careful and regular monitoring. Not every Marfan patient will immediately present with the ophthalmic problems associated with Marfan syndrome, but there is always the potential for something to happen later on such as lens displacement, retinal detachment, glaucoma etc. The optometrist should remain alert to these eventualities when Marfan syndrome is confirmed in their patient.

The Marfan Trust website and social media pages are lively and dynamic so do follow them for the latest news. 

MFS is not easy to distil or describe in a single sentence during a casual conversation. It is complicated and multi-faceted, affecting many systems of the body

Why do you think there is not more awareness of Marfan syndrome?

AC: MFS affects roughly one in 3000 people which means that approximately 18,000 are affected in the UK. We estimate that half remain undiagnosed, some dangerously so.

There are many health conditions competing for awareness and, as a rare disorder, Marfan syndrome is submerged. Everyone knows someone who has had cancer, but not many know anyone with Marfan syndrome. Added to this is the fact that MFS is not easy to distil or describe in a single sentence during a casual conversation. It is complicated and multi-faceted, affecting many systems of the body. Even the name can confuse people. It’s French and named after the physician who first described the syndrome.

Moreover, it isn’t immediately apparent or visually obvious when someone has Marfan. Whilst a classic patient will be physically characterised by excessive height, slender build, long limbs, hypermobility, deep-set eyes and long fingers, not everyone fits this bill. The external signs and internal symptoms vary hugely from one person to the next.

I think these are the reasons why the condition remains largely unknown amongst the general public and little-known even amongst certain medics. Some doctors will only encounter the syndrome once during their professional career. But once seen, never forgotten, I say!

We have also heard that some patients find it easier to describe their individual symptoms – ‘I have heart trouble, etc’ – rather than refer to the over-arching condition of Marfan, simply because it will be met with a blank look.