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

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Abstract
2 páginas, 2 figuras.-- Letter.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 additional pedigrees.ud 2 Gottsch et al4 recently reported a novelud mutation p.L450W in a separate family withud early-onset FECD.The study was supported by theud Special Trustees of Moorfields Eye Hospital.Peer reviewe