Vitamin A deficiency presenting with ptosis and optic neuropathy in child with autism spectrum disorder

To report our findings in a rare case of vitamin A deficiency (VAD) in a 5-year-old boy who presented with ptosis and exotropia.

Comprehensive ophthalmological examinations including full-field electroretinography (ff-ERG), optical coherence tomography, and magnetic resonance imaging were performed.

The 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.

This 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.