ArticleDocumenta ophthalmologica. Advances in ophthalmology2025
Vitamin A deficiency presenting with ptosis and optic neuropathy in child with autism spectrum disorder.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Bioactive Properties of Carotenoids in Ocular Diseases: Antioxidant, Anti-Inflammatory, and Neuroprotective Effects.Nutrients · 2026Review
- Trends and projections of the disease burden of vitamin A deficiency in China from 1990 to 2021.Frontiers in nutrition · 2025Article
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Authors and funding
6 authors.
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Abstract
purposeTo report our findings in a rare case of vitamin A deficiency (VAD) in a 5-year-old boy who presented with ptosis and exotropia.
methodsComprehensive ophthalmological examinations including full-field electroretinography (ff-ERG), optical coherence tomography, and magnetic resonance imaging were performed.
resultsThe decimal visual acuity was 0.02 in both eyes at the initial examination. Ophthalmological examinations revealed bilateral corneal opacities, conjunctival keratinization, and exotropia. The scotopic ff-ERGs were extinguished and the photopic ff-ERGs were significantly reduced. Blood tests confirmed severe VAD of ≤ 5 IU/dL (normal range, 97-316 IU/dL). Optical coherence tomography (OCT) showed a thinning of the retinal nerve fiber layer, and MRI suggested a narrowing of the optic nerve canals. A detailed medical history identified autism and a highly selective eating habit limited to white rice. Oral vitamin A supplementation (0.6 g/day) and zinc acetate (25 mg/day) were initiated. Within one month, the corneal epithelial defects had resolved, and the ptosis improved. One year and three months post-treatment, the scotopic and photopic ff-ERGs were markedly improved. However, the OCT and visual evoked potential findings indicated a persistent optic neuropathy.
conclusionsThis case underscores the effect of irreversible optic neuropathy due to delayed VAD diagnosis and treatment in a pediatric patient. An early detailed dietary history, electrophysiological screening, and appropriate supplementation are critical tasks that are needed to lessen the risk of irreversible visual impairment in pediatric VAD cases.
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