Maculopathy Due to Cobalamin C (cb1C) Disease in an Amish Child.
A 5-year-old Amish boy diagnosed at birth as having a defect in intracellular cobalamin metabolism, cobalamin C disease (cb1C), presented to the pediatric ophthalmology service with severe visual impairment. Ophthalmoscopy showed bilateral bull's eye macular lesions. Visual loss occurs from retinal degeneration in cb1C disease. This report highlights the importance of post-natal metabolic testing and ophthalmic evaluation in cb1C disease, especially in high-risk inbred populations.
Grant
Lorna W
LW
McCandless
Shawn E
SE
Traboulsi
Elias I
EI