Congenital hereditary endothelial dystrophy and band keratopathy in an infant with corpus callosum agenesis

Purpose. To report the features of a syndrome of endothelial failure and ba nd-shaped keratopathy in an infant with corpus callosum agenesis. Methods. The clinical and histopathologic features of an infant presenting with bila teral corneal clouding and corpus callosum agenesis are reported. The patie nt underwent bilateral penetrating keratoplasty at ages 28 months and 4 yea rs. Light and electron microscopy were used to characterize the structural changes. Results, The epithelium was thin and degenerate. Bowman's membrane contained spherical aggregates that were present also within a connective tissue pannus. The midstroma was normal, but there were floral and rope-lik e aggregations of collagen in the pre-Descemet's membrane region. Under ele ctron microscopy, the spherules formed target-shaped lesions with a central focus of alternating electron-dense and lucent material. Numerous microfil aments in the pannus and anterior stroma labeled with fibrillin-1 antibody. Microfilaments within fibroblasts were stained with vimentin antibody. Pos teriorly, the endothelium was mainly absent and Descemet's membrane showed a fetal layer and a posterior collagenous layer, Conclusion, Corneal appear ances in this patient were in keeping with those of congenital hereditary e ndothelial corneal dystrophy. However, there was no family history and neit her parent showed a clinical endothelial abnormality. The presence of fetal , banded material in Descemet's membrane suggested that endothelial loss be gan at or near the time of birth. The band keratopathy was regarded as a se condary change. The association with corpus callosum agenesis does not appe ar to have been described previously.