Amyloid corneal deposition in corneal buttons of congenital hereditary endothelial dystrophy (CHED) – A clinical and histopathological case series

Abstract

Purpose To determine the frequency, pathology and clinical relevance of amyloid deposited in corneas of CHED. Methods Clinical and histopathological case series. Results Amyloid subepithelial deposition was found in 5 (6.6%) corneal buttons of 75 patients with histopathologically confirmed CHED diagnosis. Clinical findings included history of parental consanguinity, poor vision (ranging from counting fingers from one foot to 3/200), corneal edema, and central whitish subepithelial corneal nodules in all the five cases and positive family history in 4 of 5 cases. The patients underwent PKP at a mean age of 15 years (range 3–22 years). Histological findings included attenuated endothelium (6/6) thickened Descemet’s membrane (6/6), stromal edema (2/6), and subepithelial amyloid deposits (6/6). All patients improved from vision point of view. To date, no recurrence of the amyloid has been seen in the grafts. Conclusion Considering the consanguinity, family history, early onset, and bilaterality, this study supports our hypothesis that the amyloid is primary in nature in our patients and indicates a new subtype of autosomal recessive CHED that require further chemical and genetic analysis. This subtype has the same prognosis for PKP as all CHED patients, if not better.