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Article

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

Ophthalmology - 1 Mar 2016

Brooks Brian P, Thompson Amy H, Sloan Jennifer L, Manoli Irini, Carrillo-Carrasco Nuria, Zein Wadih M, Venditti Charles P

Abstract excerpt

PURPOSE: To explore the ocular manifestations of cobalamin C (cblC) deficiency, an inborn error of intracellular vitamin B12 metabolism. DESIGN: Retrospective, observational case series. PARTICIPANTS: Twenty-five cblC patients underwent clinical and ophthalmic examination at the National Institutes of Health between August 2004 and September 2012. Patient ages ranged from 2 to 27 years at last ophthalmic visit,...

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Identifiers

PMID: 26825575
DOI: 10.1016/j.ophtha.2015.10.041
PMCID: PMC5065014

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