(9) Clinical diagnosis depends on a combination of major and minor signs as defined in revised 1996 Ghent nosology
. (7) The existence of ectopic lentis is considered a major criteria for the diagnosis of Marfan syndrome in this nosology, which unequivocally diagnose or excludes Marfan in 86% of cases.
Although the incidence of EL varies widely in prior studies, it is the major diagnostic criterion of the 2010 Revised Ghent Nosology .
Braverman et al., "The revised Ghent nosology for the Marfan syndrome," Journal of Medical Genetics, vol.
Pathogenic variants are identified in 72-93% of individuals fulfilling a clinical diagnosis of MFS based on Ghent nosology
The Ghent nosology
in 1996 (Ghent-1), which was a revision of the Berlin criteria, used the discovered FBN1 mutations as a component in the diagnostic criteria, and subsequently, the revised Ghent nosology
in 2010 (Ghent-2), highlighted the FBN1 mutation, aortic dilatation and "ectopia lentis" in the diagnosis of this entity (3-5).
is a set of clinical, radiologic and genetic criteria used in diagnosis of Marfan's syndrome.
The new criteria update the 1996 Ghent nosology
, which comprise a stringent set of major and minor manifestations in multiple organ systems.