Corneal amyloidosis associated with congenital hereditary endothelial dystrophy

Purpose. To report the unusual occurrence of corneal amyloidosis indistingu ishable from primary gelatinous drop-like dystrophy in three members of a f amily with congenital hereditary endothelial dystrophy (CHED). Method. Case study of three patients. Results. Three patients, a 5-year-old girl, her 2 1-year-old maternal aunt, and a 16-year-old paternal uncle, presented with bilateral corneal edema and opacification secondary to CHED. All three unde rwent penetrating keratoplasty, cases 1 and 3 in one eye and case 2 in both eyes. Histopathology confirmed the diagnosis of CHED in all three patients but also revealed multiple subepithelial nodular deposits of amyloid, cons istent with the diagnosis of primary gelatinous drop-like dystrophy, in all four specimens. Three other members of the same family underwent penetrati ng keratoplasty with histologic confirmation of CHED with no deposits of am yloid. Conclusion. To our knowledge, this is the first report of subepithel ial corneal amyloid deposits in association with CHED. This may represent t he concurrence of two primary dystrophies, although secondary amyloidosis c annot be ruled out. Early manifestation and absence of amyloid in three oth er family members with CHED lends more weight to a primary etiology.