A Case Of Xerophthalmia And Optic Neuropathy In A Child With Autism Spectrum Disease

We describe a case of xerophthalmia and bilateral optic neuropathy in a 6-year-old boy with autism spectrum disease (ASD), who had severe Vitamin A deficiency from an extremely restricted diet. 

A 6-year-old boy was seen in the Paediatrics Ophthalmology clinic in a tertiary hospital for bilateral poor vision and nyctalopia for a few months. Prior to this, he had been treated a few times for recurrent bilateral keratoconjunctivitis with poor ocular surface during his past hospitalisations. His medical history was significant for ASD, recurrent urinary tract infections, anaemia and short stature. His perinatal and developmental history were normal.

During review, patient appeared photophobic and red reflex was reduced for both eyes. Examination and visual acuity check were difficult due to poor cooperation. On detailed history, his diet was solely limited to french fries, chicken nuggets and soft drinks. Examination under anaesthesia revealed bilateral hazy cornea with scarring, conjunctival keratinisation and Bitot’s spots. Posterior segment examination showed bilateral temporal optic disc pallor and tessellated fundus with no xerophthalmic features. Systemically, there was no focal neurological deficit or encephalopathy. He was suspected to have xerophthalmia due to the restricted diet.

Investigations showed extremely low Vitamin A (<5.0 mcg/dL) and 25-OH Vitamin D deficiency. He underwent Vitamin A and D replacement after being referred to feeding clinic and general paediatrics team. His ocular surface improved and xerosis resolved shortly. However, his vision remained poor at light perception bilaterally. Interestingly, electrophysiology testing revealed severe post-retinal dysfunction with some rod dysfunction.  Other micronutrients were replete on further laboratory tests.  Magnetic resonance imaging of brain and anterior visual pathway was normal. Thus, his persistent poor visual acuity was attributed to bilateral nutritional optic neuropathy due to chronic Vitamin A deficiency.

Vitamin A deficiency is a reversible cause of blindness if treated early. Particularly in developed countries, we should be aware of children in ‘at risk’ groups such as ASD, systemic malabsorptive diseases, that can predispose them to Vitamin A deficiency. Early intervention can reduce morbidity and mortality rates.