Clinical and genetical diagnosis of a case of Meretoja syndrome and frontotemporal lifting procedure

Arch Soc Esp Oftalmol (Engl Ed). 2022 Oct;97(10):583-586. doi: 10.1016/j.oftale.2022.08.004. Epub 2022 Sep 13.


A 56-year-old male with family background of corneal dystrophy presents with poor subjective vision. Biomicroscopy reveals bilateral reticular stromal dystrophy and facial inspection shows signs of muscle dysfunction, such as eyebrow ptosis, weakness and sagging of the frontal muscles, redundant skin on the forehead and skin hyperelasticity. The patient is referred to Plastic Surgery for evaluation of the frontal muscle involvement, undergoing a frontotemporal lifting procedure. On the other hand, genetics confirms the pathogenic variant c.640G>A (p.Asp214Asn) in the GSN gene, encoding gelsolin, a mutation associated with Finnish-type familial amyloidosis or Meretoja syndrome.

Keywords: Distrofia corneal reticular; Frontotemporal lifting; Gelsolin; Gelsolina; Lattice corneal dystrophy; Lifting frontotemporal; Meretoja syndrome; Síndrome de Meretoja.

Publication types

  • Case Reports

MeSH terms

  • Amyloid Neuropathies, Familial* / complications
  • Amyloidosis
  • Amyloidosis, Familial*
  • Corneal Dystrophies, Hereditary* / diagnosis
  • Corneal Dystrophies, Hereditary* / genetics
  • Gelsolin / genetics
  • Gelsolin / metabolism
  • Humans
  • Lifting
  • Male
  • Middle Aged


  • Gelsolin

Supplementary concepts

  • Meretoja syndrome