Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family

To report a family with lattice corneal dystrophy type II (LCD II) associated with systemic amyloidosis type V.

A 69-year-old woman presented a LCD II and marked dermachalasis. A lower blepharoplasty was performed. Two years later a penetrating keratoplasty was performed in her left eye. Three children of the patient were studied. Subtle manifestations of LCD were identified in two of them. Pathologic study of the excised skin and corneal button was made. DNA from peripheral blood was obtained, and was subjected to amplification of exon 5 of the gelsolin.

Pathologic examination of the skin of blepharoplasty specimen demonstrated the presence of amyloid. Microscopic examination of the corneal button showed the presence of amyloid deposits beneath the normal-appearing Bowman layer and also within the stroma. Immunostaining for S-100 protein did not demonstrate a significant relationship between amyloid deposits and corneal nerves. Electron microscopic evaluation demonstrated the presence of amyloid fibrils. No clear relationship was found between amyloid deposits and corneal nerves. These findings confirm LCD type II or Meretoja syndrome. A mutation analysis of the gelsolin gene demonstrated the presence of G to A transition at nucleotide 654. Two children with manifestations of LCD also showed the identical mutation in gelsolin gene.

A new family with Meretoja syndrome is reported. This is the first documented family with Meretoja syndrome in Spain and in the Mediterranean countries. The molecular study shows the same mutation of reported families from Finland, Japan, the United States, and the United Kingdom.