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Bilateral compressive optic neuropathy and outer retinopathy due to optic canal hyperostosis in a child with isolated vitamin a deficiency

  • Clinical Case Report
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Abstract

Purpose

Vitamin A plays a crucial role in rod phototransduction, with deficient levels manifesting as night blindness. Animal models have demonstrated bone dysplasia in the setting of hypovitaminosis A. We present a rare case of bony overgrowth leading to bilateral compressive optic neuropathy, combined with outer retinopathy, in a paediatric patient secondary to isolated vitamin A deficiency.

Methods

A single case report was conducted from Toronto, Canada.

Results

A 12-year-old boy with known autism spectrum disorder presented with a 9-month history of progressive painless vision loss. Vision was 20/300 and hand motion in the right and left eye, respectively. Fundus photography demonstrated bilateral optic atrophy and yellow lesions notably in the right eye far periphery. Optical coherence tomography (OCT) imaging demonstrated thinning of the retinal nerve fibre layer, alterations in the ellipsoid zone, as well as retinal pigment epithelium deposits. Computed tomography imaging demonstrated sphenoid bone thickening with narrow optic canals and moderate optic atrophy bilaterally. Full-field electroretinogram (ERG) demonstrated mildly reduced dark adapted (DA) 0.01 b-wave amplitudes and electronegative configuration of DA 3.0 and DA 10.0 ERG; the light adapted ERGs were normal. The patient was treated with pulse vitamin A therapy. Subsequently, the DA ERG normalized, outer retinal changes reversed and vision stabilised; no surgical intervention was conducted.

Conclusion

This case represents a rare presentation of compressive optic neuropathy with concomitant outer retinopathy secondary to isolated vitamin A deficiency. Despite improvement in outer retinal integrity on OCT imaging and ERG testing results following vitamin A supplementation, no functional improvement was obtained due to severe optic atrophy.

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Not applicable.

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Funding

Ajoy Vincent is supported by the Foundation Fighting Blindness (USA; CD-CL-0617–0727-HSC).

Author information

Authors and Affiliations

  1. Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada

    Austin Pereira, Anupreet Tumber, Ajoy Vincent & Michael J. Wan

  2. Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, M Floor, Burton Wing, 555 University Avenue, Toronto, ON, M4G 1X8, Canada

    Birgit Ertl-Wagner, Ajoy Vincent & Michael J. Wan

  3. Department of Medical Imaging, University of Toronto, Toronto, ON, Canada

    Birgit Ertl-Wagner

Authors
  1. Austin Pereira
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  2. Birgit Ertl-Wagner
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  3. Anupreet Tumber
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  4. Ajoy Vincent
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  5. Michael J. Wan
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Contributions

All authors contributed to manuscript planning, organization, writing and review. Wan provided supervision throughout the study.

Corresponding author

Correspondence to Michael J. Wan.

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Conflict of interest

No authors have any conflicts of interest to disclose.

Consent to participate

The parents of this paediatric patient provided verbal and written informed consent to participation.

Consent for publication

The parents of this paediatric patient provided verbal and written informed consent for publication.

Statement of human rights

All procedures in this case report involving human studies were in accordance with the ethical standards of the Hospital for Sick Children Research Ethics Board and adhered to the tenets of the Declaration of Helsinki.

Clinical Case Report

Bilateral compressive optic neuropathy and outer retinopathy due to optic canal hyperostosis in a child with isolated vitamin a deficiency.

Statement on the welfare of animals

This study did not involve any animals.

Informed consent

Informed consent (oral and written) was obtained from the parents of the patient described in this case report.

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Pereira, A., Ertl-Wagner, B., Tumber, A. et al. Bilateral compressive optic neuropathy and outer retinopathy due to optic canal hyperostosis in a child with isolated vitamin a deficiency. Doc Ophthalmol 146, 173–180 (2023). https://doi.org/10.1007/s10633-022-09918-3

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  • DOI: https://doi.org/10.1007/s10633-022-09918-3

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