The natural history of retinal degeneration in association with cobalamin C (cbl C) disease.
OBJECTIVE
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.
Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Andrew M
AM
Schimel
Marilyn Baird
MB
Mets
D004596:Electroretinography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012160:Retina / Q000503:physiopathology; D012162:Retinal Degeneration / Q000209:etiology* / Q000503:physiopathology; D014805:Vitamin B 12 / Q000627:therapeutic use; D014806:Vitamin B 12 Deficiency / Q000150:complications* / Q000503:physiopathology
D014805:Vitamin B 12