British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene

Endothelial dystrophies produce characteristic morphological and functional abnormalities of the cornea. The most prevalent is Fuchs’ endothelial corneal dystrophy (FECD), which is characterized by bilateral primary cornea guttata and a reduced endothelial cell density that can result in corneal oedema, discomfort, and blurred vision. Histology shows a thickened Descemet’s membrane with focal posterior excrescences and endothelial cell loss. The onset of FECD is typically in the fifth decade of life,1 but an early-onset variant has been described that shows phenotypic differences from the more common late-onset disease.2 3 A genome-wide search of a three-generation family with early-onset FECD identified a locus on chromosome 1p34.3–p32.2 Within this locus a pathogenic mutation p.Q455K was found in the COL8A2 gene in this and two …