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British family with early-onset Fuchs’ endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene
  1. P Liskova1,
  2. Q Prescott1,
  3. S S Bhattacharya1,
  4. S J Tuft2
  1. 1
    Division of Molecular Genetics, Institute of Ophthalmology, University College London, London, UK
  2. 2
    Moorfields Eye Hospital, London, UK
  1. S J Tuft, Moorfields Eye Hospital 162 City Road, London, EC1V 2PD, UK; s.tuft{at}ucl.ac.uk

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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 …

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