Congenital hereditary endothelial dystrophy and band keratopathy in an infant with corpus callosum agenesis.
OBJECTIVE
To report the features of a syndrome of endothelial failure and band-shaped keratopathy in an infant with corpus callosum agenesis.


METHODS
The clinical and histopathologic features of an infant presenting with bilateral corneal clouding and corpus callosum agenesis are reported. The patient underwent bilateral penetrating keratoplasty at ages 28 months and 4 years. 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-like aggregations of collagen in the pre-Descemet's membrane region. Under electron microscopy, the spherules formed target-shaped lesions with a central focus of alternating electron-dense and lucent material. Numerous microfilaments in the pannus and anterior stroma labeled with fibrillin-1 antibody. Microfilaments within fibroblasts were stained with vimentin antibody. Posteriorly, the endothelium was mainly absent and Descemet's membrane showed a fetal layer and a posterior collagenous layer.


CONCLUSIONS
Corneal appearances in this patient were in keeping with those of congenital hereditary endothelial corneal dystrophy. However, there was no family history and neither parent showed a clinical endothelial abnormality. The presence of fetal, banded material in Descemet's membrane suggested that endothelial loss began at or near the time of birth. The band keratopathy was regarded as a secondary change. The association with corpus callosum agenesis does not appear to have been described previously.
Akhtar
S
S
Department of Optometry and Vision Science, University of Wales Cardiff, Cardiff, United Kingdom.
Bron
A J
AJ
Meek
K M
KM
Bennett
K
K
D061085:Agenesis of Corpus Callosum; D003317:Corneal Dystrophies, Hereditary / Q000378:metabolism / Q000473:pathology* / Q000601:surgery; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D004728:Endothelium, Corneal / Q000378:metabolism / Q000473:pathology*; D016326:Extracellular Matrix Proteins; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D007223:Infant; D015948:Keratoplasty, Penetrating; D008297:Male; D008840:Microfilament Proteins / Q000378:metabolism; D016253:Microscopy, Immunoelectron; D009363:Neoplasm Proteins / Q000378:metabolism; D014057:Tomography, X-Ray Computed; D016212:Transforming Growth Factor beta; D014746:Vimentin / Q000378:metabolism; D000099222:betaIG-H3 Protein; D054392:Adipokines
D016326:Extracellular Matrix Proteins; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D014746:Vimentin; D000099222:betaIG-H3 Protein; C000605722:FBN1 protein, human; D054392:Adipokines