Familial, Band-Shaped, Spheroidal Keratopathy Histopathology in Ethnic Chinese Siblings

PURPOSE.To describe the histopathology of familial, band-shaped, spheroidal keratopathy in ethnic Chinese siblings. New histopathologic findings are presented that may shed light on the etiology of this rare and unique condition. METHODS.Three ethnic Chinese siblings in Urumqi, People's Republic of China, were examined. One brother and sister had spheroidal, amber-colored droplets in the superficial, central corneal stroma. Each had a diffuse gray haze and thickening of the peripheral corneal stroma. A histopathologic study of penetrating keratoplasty specimens was performed. Another sister had only thickening and haze of the corneal stroma. RESULTS.Typical spheroidal deposits in the superficial stroma were demonstrated. One cornea had vascularization and amyloid deposition. One cornea had loss of endothelial cells and a thickened Descemet's membrane. CONCLUSION.Neovascularization and amyloid deposition are likely secondary phenomena in this familial disease. A new clinical finding is the hazy, thickened stroma. New pathologic findings are the loss of endothelial cells and the marked thickening of Descemet's membrane. An endothelial cell dystrophy may accompany familial, band-shaped, spheroidal keratopathy.