“I was advised that urgent heart surgery was necessary”

What led you to have an eye test? Had you experienced any symptoms?

Helen Fisher (HF), 57, patient: I booked a routine test to update my prescription and to discuss trying varifocals for the first time. I advised the optometrist that I had been experiencing migraines.

What did the optometrist find, and how did they explain the next steps to you?

HF: The optometrist commented that there was a small but repeatable visual field loss around the blind spot of my left eye. Katherine observed that I am tall (6’1), with long arms, legs and fingers, and she enquired whether I was aware of Marfan syndrome. I was not.

The optometrist referenced the common signs of Marfan syndrome, and I confirmed a number of the additional related conditions that I have been diagnosed with, which include scoliosis, hypermobility, crowded teeth, and walking as if flat-footed, though my arches are intact.

I was made aware of more serious heart-related issues related to Marfan syndrome, and so explained my family history of heart issues. My eldest brother died as a result of aortic dissection.

The optometrist explained that she would refer me for further visual field testing and to check for Marfan syndrome.

Can you describe how you felt during the referral?

HF: The optometrist was professional and sensitive in raising my awareness around the indications of Marfan syndrome. Her referral to my GP was prompt following the consultation, detailing the indications that we had discussed.

Did you have to undergo further treatment and what has the outcome been?

HF: My GP reviewed my medical history, agreeing that I had a number of indications of Marfan, and asked what I wished to do next. I explained that my key concern was to check for any heart issues. A colleague at the GP practice had previously noted a heart murmur. I had also previously reported tiredness, what I believed to be heart palpitations, and hearing a wheezing sound – particularly at night. The GP observed that Marfan syndrome had not ever been considered by the surgery, but agreed a further referral should be made.

After subsequent scans, I was diagnosed with a severely dilated aortic root, aortic valve regurgitation, and a need for repair to the mitral valve. I was advised that urgent heart surgery was necessary. The surgery was successfully performed in June 2023.

My advice to all is to respect the many years of training and experience of your optometrist

The referral from the optometrist included further specialist NHS (CHEC) eye checks to determine any visual field issues. I was advised that there are no concerns presently. It was explained to me that, as Marfan is a connective tissue disorder, there is a potential risk of displacement of my crystalline lens, and that Marfan should be noted should I ever require surgery for something like cataracts.

Genetic testing to confirm Marfan syndrome is yet to be organised, and I understand that there is a long waiting list, but in the meantime the consultant is certain I have Marfan or a similar condition.

Have your views on the importance of sight tests and eye care changed as a result of this experience? Would you have a key message for others about this?

HF: I was already aware of situations where an appointment with the optometrist has raised awareness of a potentially life-threatening condition, symptomatic or otherwise, and therefore I fully recommend having regular examinations.

Is there anything you would like to highlight about this experience, or a message you would share with others?

HF: I could have easily dismissed the mention of Marfan Syndrome. However, hearing from a cardiologist that if my aneurysm had burst or dissected, I would not have made it to hospital in time, was a very sobering thought. My advice to all is to respect the many years of training and experience of your optometrist.

Speaking to patients can reveal more than we ever expected

What did you identify during the sight test and what was your reaction?

Katherine Williams (KW), lead optometrist and practice owner at Eyedeal Eyecare in Bromsgrove: During the sight test I observed clinical features which were suggestive of Marfan syndrome, such as Helen’s tall, slender build with long fingers and limbs. This then led to further questioning about Helen’s general health, and she revealed having scoliosis, crowded teeth, hypermobile fingers, and has been told she walks as though she could be flat footed. These are all findings that are consistent with Marfan Syndrome.

How did you approach explaining what you had identified or suspected?

KW: I found approaching my concerns slightly difficult due to the sensitivity around commenting on physical characteristics and a potentially serious condition. I explained what Marfan syndrome is and the features associated with it. We had a look into other links to Helen’s general health which seemed to fit with a potential for Marfan syndrome. I also explained that I may be incorrect in my thoughts but that it was an avenue worth investigating.

What were the next steps that you took, and what was the significance of these steps to this case?

KW: As there were no visible signs of eye health issues with links to Marfan syndrome, I referred Helen to her GP for further testing and investigations. A referral was also made to a local clinic for a small visual field loss, which has been assessed separately.

When did you hear about the results of your referral and how have you been involved since?

KW: Helen kindly kept in touch and informed me of how she was getting on. I was concerned when she informed me that they had detected a 6.4cm aortic aneurysm and that she was going to have to go through heart surgery to fix the aneurysm and repair her mitral and aortic valves. I was relieved to hear that the surgery went well, and that Helen was receiving such excellent care from her cardiologist.

What would be your three top tips to other practitioners when making a referral?

1. It is still necessary to refer patients even if our suspicions are not directly linked to their ocular health
2. It is important to take time and ask as many questions as possible, as speaking to patients can reveal more than we ever expected
3. If in doubt, and if you have a niggling suspicion, it is always best to refer.

Is there anything that you would like to highlight to other optometrists about this experience, or around Marfan syndrome?

KW: The incidence of Marfan syndrome is much higher than the number of cases that we hear about in practice, meaning that there must be other undetected cases. In this scenario the referral led to the detection of a large aortic aneurysm which has thankfully been operated on with heart surgery. I am so pleased that Helen attended my practice and that we had discussions which led to her referral for potentially life-saving treatment. I would like this scenario to help raise awareness for Marfan syndrome and its importance.