Familial ectopia lentis syndrome

Familial ectopia lentis syndrome

  • Autosomal dominant condition caused by a variety of mutations (eg, FBN1ADAMTSL4LTBP2) that presents with ectopia lentis and some variable skeletal features similar to those observed in the Marfan phenotype 
  • Diagnosis is difficult to discriminate from emerging Marfan syndrome; therefore, it is usually established in patients aged 20 years or older
  • Differentiate by clinical presentation, negative family history for Marfan syndrome, disease course (eg, absence of development of significant aortic root dilation), and absence of FBN1 mutation that is not unequivocally associated with cardiovascular disease in either a related or unrelated proband
  • Definitive diagnosis is established in patients older than 20 years with ectopia lentis and marfanoid skeletal features whose condition does not fulfill Ghent criteria (eg, aortic root z score less than 2, no FBN1 pathogenic variant associated with aortic enlargement)
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