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I. ElKochairi, I. Letovanec, S. Uffer, F.L. Munier, P. Chaubert, D.F. Schorderet; First Complete Autopsy of a Patient Affected With BIGH3–related Corneal Dystrophy . Invest. Ophthalmol. Vis. Sci. 2005;46(13):4922.
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Purpose: to investigate the location and tissue–specificity of the pathologic kerato–epithelin (KE) deposition in a patient with keratoepithelinopathy (KEP). Methods: A complete autopsy was performed in a patient with KEP after authorisation was obtained from the family. Mutation screening in BIGH3 was done several years ago. KE–2, a rabbit antisera raised against peptides from 426–682 amino acid region of KE, was used for immunohistology. Fourteen different tissues or organs, including heart, lymph node, lung, oesophagus, kidney, liver, bone marrow, muscle, spleen, parathyroid, prostate, adrenal gland, CNS, and cornea, were investigated. Results: The patient, diagnosed with KEP and Alzheimer's disease, died at 79 years of age from a complicated chronic obstructive lung disease. Mutation analysis showed the classical R124C mutation in exon 4 of BIGH3. Except for the cornea, immunostaining with KE–2 antisera did not reveal any deposits in any of the thirteen other organs analyzed. Conclusions: Pathologic deposits caused by KE accumulation were only observed in the cornea and in no other tissue or organ in this patient. These results suggest a cornea–specific mechanism in the aggregation of KE. Further studies need to be done to investigate whether the degradation of mutated KE generates cornea–specific fragments that aggregate and/or whether the clearing of normal fragments is different in affected corneas, which then leads to aggregation.
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