Login / Signup

[Ocular manifestations of Marfan syndrome].

E A ChizhonkovaK S AvetisovSergey Eduardovich AvetisovS I Kharlap
Published in: Vestnik oftalmologii (2022)
Marfan syndrome is an orphan disease that is caused by a mutation in the FBN1 gene located on chromosome 15 (15q21.1) and is usually inherited in an autosomal dominant manner. The article reviews the results of studies concerning the potential ocular manifestations of Marfan syndrome.
Keyphrases
  • case report
  • copy number
  • aortic aneurysm
  • aortic dissection
  • randomized controlled trial
  • gene expression
  • risk assessment
  • optic nerve
  • genome wide identification