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01-12-2013 | Original Paper

Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutation

Authors: Assad Jalil, Hasan Anzar Usmani, Muhammad Irfan Khan, Emma L. Blakely, Robert W. Taylor, Grace Vassallo, Jane Ashworth

Published in: International Ophthalmology | Issue 6/2013

Abstract

We present an 11-year-old girl with sudden, severe, sequential optic neuropathy. Investigations revealed severe vitamin B12 deficiency, and identified a novel mitochondrial ND5 variant. She was treated with steroids followed by plasma exchange, but the vision continued to deteriorate to eventual bilateral blindness over the next few months. Vitamin B12 deficiency can rarely cause severe irreversible visual loss secondary to optic neuropathy. The significance of the concurrent mitochondrial ND5 variant remains undetermined.

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Title: Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutation
Authors: Assad Jalil
Hasan Anzar Usmani
Muhammad Irfan Khan
Emma L. Blakely
Robert W. Taylor
Grace Vassallo
Jane Ashworth
Publication date: 01-12-2013
Publisher: Springer Netherlands
Published in: International Ophthalmology / Issue 6/2013
Print ISSN: 0165-5701
Electronic ISSN: 1573-2630
DOI: https://doi.org/10.1007/s10792-013-9773-z

At a glance: The STEP trials

Springer Medicine

Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutation

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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