Optic neuropathy associated with vitamin A deficiency in children: a case series.

BACKGROUND

Vitamin A deficiency (VAD) is increasingly recognized in high-income countries, driven by conditions such as gastrointestinal disorders, restrictive diets, and avoidant/restrictive food intake disorder (ARFID). ARFID, particularly prevalent in individuals with autism spectrum disorder (ASD), can lead to severe nutrient deficiencies with systemic and ophthalmological consequences. We present a series of pediatric patients with ASD and ARFID who developed severe, progressive vision loss due to optic canal hyperostosis and compressive optic neuropathy associated with VAD.

METHODS

Patients treated at a single tertiary care center from January 2024 to December 2024 who were diagnosed with VAD, optic neuropathy, and hyperostosis of the optic canals were identified through a retrospective review of medical records. Data collected included full orthoptic and ophthalmological evaluation, electrodiagnostic testing, and fundus imaging where possible. Serological and neuroradiological investigations were included.

RESULTS

Five patients were identified. All presented with bilateral or unilateral visual impairment, optic atrophy, and restricted diets dominated by carbohydrate-rich, low-nutrient foods. Investigations revealed VAD alongside other nutritional deficiencies. Imaging demonstrated diffuse skull thickening, optic canal narrowing, and compression of intracanalicular optic nerve segments. Electrophysiological findings suggested optic nerve dysfunction rather than primary retinal involvement. Despite vitamin A supplementation, vision did not recover in most cases, emphasizing the irreversible nature of prolonged optic nerve compression. Surgical decompression was attempted in one case, without visual improvement.

CONCLUSIONS

This series underscores the importance of early identification and management of ARFID-related nutritional deficiencies to prevent irreversible complications. Further research is needed to explore optimal management strategies, including whether there is any role for optic canal decompression in these patients.