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.