Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type

Key Information
Source
Case Reports in Medicine
Year
2017
summary/abstract

Amyloidosis is a group of diseases that can be divided into localized or systemic and the etiology is primary, secondary, or hereditary. Lattice corneal dystrophy, gelsolin type-Meretoja's syndrome-is also called lattice corneal dystrophy type 2 (LCD2) or familial amyloidotic polyneuropathy (FAP) type IV and is an autosomal dominant inherited disease caused by a mutation G654A or G654T in the gelsolin gene at 9q32-34. The biochemical analyses have indicated that the amyloid fibrils formation is related to mutant gelsolin and amyloid deposition is found in various tissues such as cornea, skin, vascular walls, and perineurium. It was first described in 1969 by Dr. Meretoja, a Finnish ophthalmologist, and since then some cases in a limited number of countries have been reported, probably because the disease is underdiagnosed or misdiagnosed.

Abstract Source
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5306973/
DOI
10.1155/2017/2843417
Authors
Casal, S. Monteiro, C. Abreu, M. Neves, L. Oliveira, and M. Beirão
Organisation
Hospital de Santo Antonio, Portugal; Universidade do Porto, Portugal