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Exclusion of COL8A1, the gene encoding the α2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy
  1. J E Urquhart1,
  2. S Biswas1,
  3. G C M Black1,
  4. F L Munier2,
  5. J Sutphin3
  1. 1Academic Unit of Eye and Vision Science, Manchester Royal Eye Hospital, School of Medicine, University of Manchester, Manchester, UK
  2. 2Hôpital Ophtalmique Jules Gonin, Lausanne, Switzerland
  3. 3Department of Ophthalmology & Visual Science, University of Iowa, Hawkins Iowa City, Iowa, USA
  1. Correspondence to: G C M Black Department of Clinical Genetics, Central Manchester and Manchester Children’s University Hospitals NHS Trust, St Mary’s Hospital, Hathersage Road, Manchester M13 0JH, UK; gblack{at}manchester.ac.uk

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Fuchs endothelial corneal dystrophy (FECD) MIM#136800 and posterior polymorphous corneal dystrophy (PPCD) MIM#122000 both belong to the corneal endothelial dystrophies in which endothelial dysfunction can lead to corneal oedema. In addition, they both share the common features of endothelial metaplasia and the secretion of an abnormal Descemet’s membrane as a pathological posterior collagenous layer (PCL) with a small or absent posterior non-banded zone.1,2

The exact cause of both FECD and PPCD is still unknown, although both are thought to be the result of a disorder of neural crest terminal differentiation.3 Mutations in COL8A2, the gene for the α2(VIII) chain of type VIII collagen, have previously been described in patients with both FECD and PPCD,4,5 and type …

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