Symptoms of Marfan syndrome: focus on the paediatric patient

La Marfan syndrome or Marfan's disease is an autosomal dominant genetic disorder of connective tissue caused by mutations in the fibrillin-1 gene (FBN1).¹ Fibrillin-1 is a protein involved in the formation of elastic fibres¹ connective tissue and, for this reason, Marfan syndrome is characterised by the weakening of connective tissue². The manifestations of Marfan syndrome affect multiple organs, including the musculoskeletal system, the skin, the cardiovascular system and the eye.¹ Ocular involvement may be present in as many as 54% of patients with Marfan syndrome.¹ The most common ocular manifestations include ectopia lentis (i.e. displacement of the lens of the eye from its normal position) and retinal detachment.² Less serious consequences may include a decrease in corneal curvature, increased corneal astigmatism and myopia.³

Ophthalmologists play a very important role in the detection of Marfan syndrome⁴diagnosis is usually clinically based, but genetic tests are also available.³

Marfan syndrome: symptoms in the paediatric patient

Knowledge of the symptoms of Marfan syndrome in children is still limited.³ Studies show that children with this condition are at higher risk of developing ectopia lentismyopia and reduced visual acuity (low vision).³ In particular, ectopia lentis is one of the main diagnostic criteria for Marfan syndrome, in children as well as adults, and occurs in the 49% of younger patients with the condition.³ Myopia and corneal astigmatism are also typically present in children with Marfan syndrome.³ The eyes of affected children also appear to have a thicker lens than those of unaffected children.³ Although not an absolute diagnostic criterion for Marfan syndrome in adults, reduced corneal curvature is characteristic of this condition, so it could be considered as a diagnostic criterion in children.³ Reduction of central corneal thickness is commonly reported in adult patients and a recent study found it for the first time even in younger patients.³ Children with Marfan syndrome also have lower intraocular pressure than healthy children and iridodontitis (a flickering of the iris that appears when the eye is moved).³

Management of ocular manifestations in the patient with Marfan syndrome

Managing the symptoms of Marfan syndrome can be challenging. Patients should be assessed by an ophthalmologist for a number of parameters, including intraocular pressure, lens status, retinal status and optic nerve changes.⁴ When subluxation of the crystalline lens occurs (whereby the natural lens loses its normal position and becomes dislocated), the first line of management is to correct the refractive error with glasses but, in more severe cases, removal of the crystalline lens is necessary. In most cases, the implantation of a phakic lens (i.e. the insertion of a lens inside the eye, without removing the natural lens), a safe and effective means of visual rehabilitation, is sufficient. After surgery, patients must be followed up regularly. Patients with Marfan syndrome must also be prepared to seek emergency ophthalmological consultation if they see flashes or experience partial or complete loss of visual acuity. Early intervention to treat possible retinal detachment can preserve the visual function of affected patients.⁴

Bibliography

• Salchow DJ, Gehle P. Ocular manifestations of Marfan syndrome in children and adolescents. Eur J Ophthalmol. 2019 Jan;29(1):38-43. doi: 10.1177/1120672118761333. Epub 2018 Mar 27. PMID: 29587526.
• Shah SS, Kurup SP, Ralay Ranaivo H, Mets-Halgrimson RB, Mets MB. Pupillary manifestations of Marfan syndrome: from the Marfan eye consortium of Chicago. Ophthalmic Genet. 2018 Jun;39(3):297-299. doi: 10.1080/13816810.2018.1424207. Epub 2018 Jan 16. PMID: 29336629.
• Salchow DJ, Gehle P. Ocular manifestations of Marfan syndrome in children and adolescents. Eur J Ophthalmol. 2019 Jan;29(1):38-43. doi: 10.1177/1120672118761333. Epub 2018 Mar 27. PMID: 29587526.
• Esfandiari H, Ansari S, Mohammad-Rabei H, Mets MB. Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective. J Ophthalmic Vis Res. 2019 Jan-Mar;14(1):71-77. doi: 10.4103/jovr.jovr_29_18. PMID: 30820290; PMCID: PMC6388525.

Dr. Carmelo Chines
Direttore responsabile