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01.12.2013 | Original Paper

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

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

Erschienen in: International Ophthalmology | Ausgabe 6/2013

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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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Titel: Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutation
verfasst von: Assad Jalil
Hasan Anzar Usmani
Muhammad Irfan Khan
Emma L. Blakely
Robert W. Taylor
Grace Vassallo
Jane Ashworth
Publikationsdatum: 01.12.2013
Verlag: Springer Netherlands
Erschienen in: International Ophthalmology / Ausgabe 6/2013
Print ISSN: 0165-5701
Elektronische ISSN: 1573-2630
DOI: https://doi.org/10.1007/s10792-013-9773-z

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

Abstract

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