Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria

E. I. Traboulsi, J. C. Silva, M. T. Geraghty, I. H. Maumenee, D. Valle, W. R. Green

Research output: Contribution to journalArticlepeer-review


The eyes of a 22-month-old girl with the cobalamin C complementation type of combined methylmalonic aciduria and homocystinuria were studied with light and electron microscopy. We observed vacuolization of the iris pigment epithelium, loss of photoreceptors in the central 3.3 mm of the macula, partial loss of the nerve fiber and ganglion cell layers between the fovea and optic disk, and partial optic atrophy. The sclera in the posterior pole was thickened with deposition of mucopolysaccharide. Electron microscopy showed inclusions containing fine granular material in conjunctival fibrocytes; corneal epithelium, keratocytes, and endothelial cells; iris pigment epithelium; ganglion cells; retinal pigment epithelium; and choroid and scleral fibrocytes. Enlarged mitochondria and clear vacuoles distended the corneal endothelial cells. We found evidence of possible lysosomal dysfunction and mucopolysaccharide storage, as well as a clinicopathologic correlation of the macular degeneration in this disease.

Original languageEnglish (US)
Pages (from-to)269-280
Number of pages12
JournalAmerican journal of ophthalmology
Issue number3
StatePublished - 1992

ASJC Scopus subject areas

  • Ophthalmology


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