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

Purpose: 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.

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

Results: 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.

Conclusions: 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.