What is Marfan syndrome and how it affects the eyes
Among the many causes and risk factors that can impair visual function, special attention deserves the Marfan syndrome.
What is Marfan syndrome?
Marfan syndrome (MFS- Marfan syndrome) is a genetic disease of an autosomal characterdominant mycosis, which affects the connective tissue. Connective tissue has the function of interconnecting the body's tissues by providing structural support and support to organs. Individuals with MFS present a mutation in the gene coding for fibrillin-1 proteinwhich is an important connective tissue protein crucial for maintaining the integrity of elastic fibres. Defects in this gene have the greatest effect on the cardiovascular, skeletal and muscular systems and, above all, on the visual apparatus. In fact, approximately 54% of individuals with MFS have ocular alterations that, among other things, are decisive in the diagnosis of the syndrome itself. Furthermore, some of the ocular complications for individuals with Marfan syndrome are: premature cataract, retinal detachment e glaucoma
Diagnostic criteria based on ocular parameters
Individuals with Marfan syndrome may present with a highly variable clinical picture, Therefore, immediately establishing the presence of the condition is not always easy. In general, the diagnosis of the syndrome takes into account certain international criteria (the Ghent criteria) based on the most common and uncommon clinical signs. One of the most significant diagnostic criteria, based on certain ocular features, is the ectopia of the crystalline lens (ectopia lentis) in the presence of which the crystalline lens, the natural lens of the eye, is not located in place but displaced to the periphery, leading to a marked reduction in visual acuity.
Other ocular parameters that are used in the diagnosis of Marfan syndrome include:
- abnormal and flat cornea;
- increased axial length of the eyeball;
- hypoplastic iris or hypoplastic ciliary muscle;
- miosis, i.e. a pupillary reduction.
Management of the patient with Marfan syndrome
Precisely because of the complex clinical picture presented by a person suffering from this syndrome, theapproach to patient management is multidisciplinary and involves several medical specialities such as the cardiologist, geneticist and ophthalmologist. Marfan syndrome also induces an increased susceptibility to refractive defectsmyopia in particular, for which treatment with corrective lenses is strongly recommended. In some cases, however, surgical removal of the crystalline lens is carried out if it is completely damaged.
 Sources
-Harry Dietz. Marfan Syndrome. GeneReviews. 2017. https://www.ncbi.nlm.nih.gov/books/NBK1335/
- Loeys BL et al. Revised Ghent criteria for the diagnosis of Marfan syndrome (MFS) and related conditions. J Med Genet 2010; 47:476-485
Dr. Carmelo Chines
Direttore responsabile
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