Abstract
Purpose: To describe the association between retinal degeneration and cobalamin C (cblC) disease and to review previously published ophthalmic data regarding cblC disease. Methods: Descriptive case series of three patients and compilation of all previously reported cases of cblC disease in the ophthalmic literature. Results: All three new cases presented with macular pigmentary changes and showed attenuation of electroretinographic responses. Sequential ERG (electroretinogram) testing in Case 1 demonstrated ERGs that began at the lower limits of normal and became progressively attenuated over time. Conclusions: Cobalamin C disease results in progressive retinal degeneration with its onset in the first few months of life and progressing rapidly over the first few years of life.
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