What is keratoepithelin amyloidosis and lactoferrin amyloidosis?

Updated: Nov 12, 2018
  • Author: Robert O Holmes, Jr, DO; Chief Editor: Herbert S Diamond, MD  more...
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Answer

Answer

Point mutations occur in a gene termed BIGH3, which encodes keratoepithelin and leads to autosomal dominant corneal dystrophies characterized by the accumulation of corneal amyloid. Some BIGH3 mutations cause amyloid deposits, and others cause nonfibrillar corneal deposits. Another protein, lactoferrin, is also reported as the major fibril protein in familial subepithelial corneal amyloidosis. The relationship between keratoepithelin and lactoferrin in familial corneal amyloidosis is not yet clear.


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