Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities

Richard M. Robb*, S. Bruce Dowton, Anne B. Fulton, Harvey L. Levy

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

42 Citations (Scopus)


A 33-month-old boy with an inborn error of vitamin B12 metabolism characterized by methylmalonic aciduria, homocystinuria, cystathioninuria, and hypomethioninemia had poor vision and a progressive retinal pigmentary degeneration. The child had early growth retardation with microcephaly, developmental delay, and a megaloblastic anemia. The retinal lesions were first noted when he was 1 year of age and, by ophthalmoscopy and by electroretinographic testing, have progressed. Treatment with hydroxocobalamin and L-methionine improved the anemia and the biochemical abnormalities but apparently did not halt the retinal degeneration. We believe the retinopathy is a feature of this disease, particularly in patients with infantile involvement. The retinal lesion may be caused by an unidentified abnormality of sulfur amino acid metabolism.

Original languageEnglish
Pages (from-to)691-696
Number of pages6
JournalAmerican Journal of Ophthalmology
Issue number6
Publication statusPublished - 1984
Externally publishedYes


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