Electrophysiological assessment of nutritional optic neuropathy: a case report.

Emily K O'Neill, Kshitij Mankad, Richard Bowman, Dorothy A Thompson

Journal: Documenta ophthalmologica. Advances in ophthalmology 2023;146(2):181-189

PMID: 36653599

Abstract

PURPOSE

To report an unexpectedly asymmetric, progressive nutritional optic neuropathy associated with vitamin A deficient optic canal hyperostosis in a 15-year-old female with a long history of a restricted diet.

METHODS

We performed comprehensive ophthalmic assessments in a fifteen-year-old female with a long history of restricted eating who presented with suspected nutritional optic neuropathy, predominantly affecting the right eye vision.

RESULTS

A review of computerised tomography and magnetic resonance imaging revealed bilateral optic canal hyperostosis likely associated with vitamin A deficiency. Electrodiagnostic tests and optical coherence tomography provided structure-function evidence of bilateral retinal ganglion cell dysfunction and notably revealed severe loss of temporal fibres in the left eye which showed cecocentral scotoma but normal visual acuity. Although selective damage of the papillomacular bundle has been well-documented in nutritional and toxic optic neuropathies, compressive optic canal hyperostosis secondary to nutritional deficiency has been rarely reported.

CONCLUSIONS

Nutritional deficiencies are increasing in high-income countries and may be linked to the rise of gastrointestinal disorders, strict vegan and vegetarian diets and avoidant restrictive food intake disorder (ARFID) associated with conditions such as depression and autism spectrum syndrome (ASD). Our findings highlight the value of electrodiagnostic testing alongside imaging in complex nutritional optic neuropathies to help monitor, guide treatment and preserve remaining sight in a child.

© 2023. The Author(s).

Address: Clinical and Academic Department of Ophthalmology, Visual Electrophysiology Unit, Great Ormond Street Hospital for Children, NHS Trust, 40-41 Queen Square, London, WC1N 3AJ, UK. Emily.O'[email protected].; UCL Great Ormond Street Institute of Child Health, University College London, 30 Guildford Street, London, UK. Emily.O'[email protected].; Department of Radiology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.; Clinical and Academic Department of Ophthalmology, Visual Electrophysiology Unit, Great Ormond Street Hospital for Children, NHS Trust, 40-41 Queen Square, London, WC1N 3AJ, UK.; UCL Great Ormond Street Institute of Child Health, University College London, 30 Guildford Street, London, UK.
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