Marfan syndrome - Systemic and Ocular features

Marfan syndrome is one of the most common inheritable genetic defects with a prevalence of around 1 in 5000 population. It is an Autosomal Dominant (AD) connective tissue disorder, with basic defect (mutation) in the gene named fibrillin 1 (FBN1), the gene that is responsible for production of fibrillin, which is a glycoprotein responsible for providing elastic strength and stability to tissues.

The condition is present at birth, but may not be diagnosed until a person is a teenager or young adult, and is diagnosed incidentally when they present for a routine physical examination.

The patients affected with Marfan syndrome majorly have abnormalities of cardiovascular, musculoskeletal and ocular systems.

Musculoskeletal features – Tall stature, long limbs and fingers (arachnodactyly), loose flexible joints, scoliosis, chest deformities (like flat chest), Stooping shoulders, High arched palate, crowded teeth and overbite.

Cardiovascular abnormalities – Enlargement of aortic root, dilation of descending aorta, dissecting aneurysm and floppy mitral valve.

Ophthalmic(ocular) manifestations – Seen in more than 80% of affected patients - Ectopia Lentis (dislocation of lens from its normal anatomical position, most commonly in supero-temporal direction), Iridodonesis (tremulousness of iris), Iris transillumination defects, Megalocornea and heterochromia iridis.

The management of Marfan syndrome, as is true of any systemic condition is multidisciplinary.

The patient’s prognosis depends on the severity of cardiovascular complications and is mainly determined by progressive dilation of the aorta.

Prophylactic medical treatment to protect the aorta with regular follow‑up with the cardiologists helps prevent or delay serious complications.

Ophthalmic management comprises of Regular eye checkup, lens extraction, advice on aphakic spectacle wear, and Secondary IOL implantation based on ocular features.

Radiological evaluation like MRI of the pelvis to locate dural ectasia and radiography of the skeletal bones may be useful.

Genetic counselling and molecular diagnosis will play a role. Appropriate medical and surgical management can improve and extend the lives of many patients, and advancing research holds the promise of further improvements in the future.