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Ophthalmic Images |

Cobalamin C Deficiency–Associated Pigmentary Retinopathy Online Only

José María Garcia-Gonzalez, MD1; Ashley E. Neiweem, MS2; Michael A. Grassi, MD1,3
[+] Author Affiliations
1Retina Consultants Ltd, Des Plaines, Illinois
2Chicago Medical School, Rosalind Franklin University of Medicine and Science, North Chicago, Illinois
3Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago
JAMA Ophthalmol. 2015;133(12):e152161. doi:10.1001/jamaophthalmol.2015.2161.
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This case report describes a girl with poor vision in both eyes and examination findings consistent with cobalamin C deficiency–associated retinopathy.

A 12-year-old girl had poor vision in both eyes since childhood. Visual acuity was counting fingers with associated nystagmus. The electroretinogram was nonrecordable. Her medical history was notable for failure to thrive, methylmalonic aciduria, and homocystinuria. Genetic testing revealed mutations in the MMACHC gene.

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Montage retinal photograph of the left eye reveals atrophic lacunae with hyperpigmented perimeters admixed with surrounding retinal pigment epithelial hyperplasia and coarse placoid pigmentary clumping in the posterior pole, optic disc pallor, retinal arteriolar attenuation, and retinal pigment epithelial atrophy extending to the midperiphery with overlying bone spicule–like pigment.

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