Corneal amyloidosis associated with congenital hereditary endothelial dystrophy

To report the unusual occurrence of corneal amyloidosis indistinguishable from primary gelatinous drop-like dystrophy in three members of a family with congenital hereditary endothelial dystrophy (CHED).

Case study of three patients.

Three patients, a 5-year-old girl, her 21-year-old maternal aunt, and a 16-year-old paternal uncle, presented with bilateral corneal edema and opacification secondary to CHED. All three underwent 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, consistent with the diagnosis of primary gelatinous drop-like dystrophy, in all four specimens. Three other members of the same family underwent penetrating keratoplasty with histologic confirmation of CHED with no deposits of amyloid.

To our knowledge, this is the first report of subepithelial corneal amyloid deposits in association with CHED. This may represent the concurrence of two primary dystrophies, although secondary amyloidosis cannot be ruled out. Early manifestation and absence of amyloid in three other family members with CHED lends more weight to a primary etiology.