Hereditary Disorder That Affects the Entire Body

Marfan Syndrome is a hereditary connective tissue disorder that affects multiple organs and systems, including the heart, blood vessels, musculoskeletal system, lungs, and eyes.

Eye manifestations occur in 60-80% of people with this syndrome and often determine their quality of life and risk of complications. Visual impairments in Marfan Syndrome can be as severe as cardiac problems. Therefore, ophthalmologic diagnostics are one of the key aspects of managing such patients.

Symptoms

The clinical manifestations affecting the eyes depend on the degree of connective tissue involvement, but the most common symptoms include:

• Decreased distance vision;
• Double or distorted vision;
• Increased sensitivity to light (photophobia);
• Complaints of “floaters” before the eyes;
• Changes in pupil shape (in cases of lens subluxation);
• Frequent headaches caused by accommodative strain.

In severe cases, patients may experience a sudden decrease in vision, in which case immediate examination by an ophthalmologist is required to rule out retinal detachment.

Causes

The main cause of Marfan Syndrome is a mutation in the FBN1 gene (on chromosome 15q21.1), which encodes the protein fibrillin-1 responsible for forming microfibrils in connective tissue.
Due to this defect, the structure of elastic fibers is disrupted, making tissues less strong and resilient.

In the eye, this manifests as:

• Weakening of the zonular fibers that hold the lens;
• Overstretching of the sclera, leading to elongation of the eyeball;
• Impaired aqueous humor drainage, contributing to the development of glaucoma;
• Increased fragility of retinal blood vessels.

The disease is inherited in an autosomal dominant manner: a single copy of the mutant gene is enough for the disorder to develop. However, the severity of manifestations can vary greatly even within the same family.

Types of Eye Involvement in Marfan Syndrome

Marfan Syndrome presents with various forms of ocular disorders, which may occur either separately or in combination:

• Ectopia (subluxation) of the lens: the most characteristic symptom, occurring in 50–80% of patients. The lens shifts due to the weakness of the zonular fibers, most often upward and outward. This causes image distortion and impaired focusing.
• Myopia (nearsightedness): associated with elongation of the eyeball. It can progress with age, increasing the risk of retinal detachment.
• Astigmatism: results from corneal deformation or abnormal lens position.
• Corneal dysplasia and enlargement of the eyeball (megalophthalmos): lead to reduced visual acuity.
• Retinal detachment: a severe complication that may develop spontaneously, even without trauma.
• Glaucoma and cataract: often develop earlier than in people without the syndrome due to impaired intraocular pressure regulation and fiber structure.

Diagnosis and Treatment

Diagnosis of ocular manifestations in Marfan Syndrome includes:

• Ophthalmoscopy and slit-lamp examination to assess the condition of the lens, vitreous body, and retina;
• Ocular biometry to measure the length of the eyeball and corneal thickness;
• Tonometry to monitor intraocular pressure;
• Optical coherence tomography (OCT) to detect early retinal changes;
• Genetic testing to confirm the FBN1 mutation.

Complete recovery from Marfan Syndrome is impossible, but the progression of complications can be slowed and vision preserved.

• Optical correction (glasses, contact lenses) helps compensate for myopia and astigmatism;
• Surgical treatment of lens subluxation: in cases of significant displacement, phacoemulsification is performed with implantation of an artificial lens fixed to the sclera;
• Treatment of glaucoma and cataract: includes medication (eye drops reducing pressure) and surgery if necessary;
• Prevention of retinal detachment: laser coagulation at the first signs of retinal tears or thinning.

Regular ophthalmologic check-ups (at least twice a year) are mandatory since complications may develop gradually and asymptomatically.

Why Marfan Syndrome Is Dangerous

The main danger is irreversible vision loss. Lens displacement and eyeball elongation cause mechanical and optical disturbances that, without timely correction, lead to:

• Retinal tears or detachment;
• Development of secondary glaucoma;
• Early lens clouding (cataract);
• Thinning and reduced transparency of the cornea.

It is also important to note that ophthalmologic problems often become early markers of systemic complications of the syndrome, particularly aortic and heart valve involvement.

Prognosis

Life expectancy in Marfan Syndrome is primarily determined by the condition of the cardiovascular system, but the severity of ocular damage significantly affects quality of life and disability.
Without proper supervision, complications can progress rapidly, leading to complete vision loss and secondary systemic problems.

With regular monitoring and modern surgical correction methods, patients can maintain satisfactory vision and quality of life. Timely treatment increases life expectancy to 60–70 years, whereas without therapy, serious complications often reduce it to 40–50 years.

Patients are advised to remain under constant supervision by an ophthalmologist, cardiologist, and geneticist. They should avoid head and eye trauma, heavy physical exertion, and contact or water sports.

Women with Marfan Syndrome should undergo medical and genetic counseling before planning pregnancy, as the disease carries a high risk of inheritance.