BILATERAL PENETRATING KERATOPLASTY FOR SCLEROCORNEA IN AN INFANT WITHMONOSOMY-21 - CASE-REPORT AND REVIEW OF THE LITERATURE

An 8-month-old caucasian girl with monosomy 21 and sclerocornea underw ent bilateral penetrating keratoplasties. Both light and electron micr oscopic studies were performed on the corneal buttons. Light microscop y revealed variable and abnormal corneal thickness with the peripheral cornea being thinner than the center, lack of Bowman's layer, irregul ar stromal lamellae, stromal vascularization, markedly underdeveloped or absent Descemet' s membrane, and marked attenuation of the endothel ium. Electron microscopy demonstrated basal epithelial cells with a th in epithelial basement membrane residing directly on stromal lamellae without intervening Bowman's layer. Stromal collagen fibrils were irre gular in size measuring 38-69 nm in diameter. We believe this to be th e first report of corneal transplantation and the second reported case of sclerocornea in a patient with monosomy 21.