Vitamin A Deficiency in Non-verbal Adolescent With Autism Spectrum Disorder
Title: Vitamin A Deficiency in Non-verbal Adolescent With Autism Spectrum Disorder
Authors: Susan Luo MS4, Cole Swiston MD PGY-3, Robert Hoffman MD
Photographer: Robert Hoffman MD
Keywords/Main Subjects: Bitot’s spots, vitamin A deficiency, xerophthalmia
Diagnosis: Xerophthalmia and Bitot’s Spots from Vitamin A Deficiency
Description of Case:
The patient is an 11-year-old non-verbal boy with autism and developmental delay as well as eosinophilic esophagitis. He was referred to pediatric ophthalmology after a very limited exam at the Moran Eye Center (due to cooperation), where he was diagnosed with severe dry eye syndrome and started on fluorometholone (FML) drops. His parents at the time felt that he was progressively losing vision over the span of 3-4 months, during which time he was falling more and running into walls. Notably, these symptoms were worse at night and the patient would not fall asleep unless the light was left on in his room. He had also been evaluated previously by allergy and immunology given his eosinophilic esophagitis and was diagnosed with allergic rhinoconjunctivitis and was told to use allergy eye drops which did not help the symptoms. After an additional limited ophthalmologic exam in the emergency room, the patient was scheduled for exam under anesthesia.
Most notable on this exam was severe ocular surface disease including dense punctate epithelial erosions as well as a confluent inferior epithelial defect in the right eye. Also evident was injected and keratinized bulbar conjunctiva (Figure 1a) which stained with fluorescein (Figure 1b)—consistent with Bitot’s spots and xerophthalmia. The remainder of his anterior segment and fundus examinations were within normal limits. On further questioning, the parents revealed that the patient has a very limited diet and refuses to eat most things other than peanut butter sandwiches. A serum Vitamin A level was drawn which returned severely decreased at <6.0 mcg/dL. The FML drop was stopped and the patient was started on moxifloxacin drops in the right eye given the epithelial defect as well as frequent erythromycin ointment in both eyes and was referred for vitamin A supplementation. On the most recent clinic follow up, the parents felt that overall, his eye redness had improved and that he is slowly improving towards his visual baseline. The patient is now scheduled for repeat exam under anesthesia with electroretinography.
Vitamin A deficiency (VAD) is the leading cause of preventable blindness in children across the world, resulting in 250,000 to 500,000 new cases of blindness annually.1-2 Vitamin A is a fat-soluble vitamin derived from the diet, with high levels found in leafy vegetables and dairy products.2 VAD occurs more commonly in developing countries due to malnutrition, though cases are also seen in developed countries—particularly among those with restricted diets. Causes of VAD include reduced dietary intake, impaired absorption, or reduced hepatic storage of Vitamin A.
Xerophthalmia describes the spectrum of ocular signs and symptoms associated with VAD including night blindness, conjunctival and corneal xerosis, corneal ulceration, and corneal scarring.
Adequate levels of vitamin A are essential for proper visual function in the retina and epithelial cellular integrity in the eye. Vitamin A serves as a precursor to rhodopsin, a retinal pigment in rod cells required for night vision.1 Vitamin A also serves to maintain the epithelial integrity of the conjunctiva and cornea through the differentiation of the stratified squamous epithelium of the ocular surface; deficiency leads to characteristic symptoms of dryness associated with xerophthalmia.
Levels of vitamin A are also influenced by zinc, an essential trace element.3 Zinc is required for synthesis of retinol-binding protein (RBP) in the liver and helps regulate vitamin A transport to the retina. Therefore, zinc deficiency may influence the development of vitamin A deficiency through suppression of RBP and retinol.3
Cases of dry eyes refractory to conventional treatment should warrant a thorough dietary and nutritional history, social history, and history of recent illness or malabsorptive disorders.1 Clinical signs of xeropthalmia are summarized in the table below and should raise suspicion for vitamin A deficiency.
Table 1: World Health Organization (WHO) Classification of Xerophthalmia4-5
Bitot’s spots are a specific manifestation of vitamin A deficiency. Along with a thorough history, obtaining laboratory blood tests such as serum vitamin A/retinol levels, zinc levels, and serum retinol binding protein (RBP) can be helpful in determining the underlying cause.6 Reference ranges are listed below.
Table 2: Serum Blood Tests for VAD
Additional tests include dark adaptometry and night vision threshold tests to help diagnose deficits in night vision.1 Dark adaptometry demonstrates elevated rod and cone thresholds, with a greater elevation of rod thresholds.7 Electroretinogram may reveal decreased b-wave amplitude correlating with reduced functioning capacity of rods.7-8
Treatment and Prognosis:
Treatment of xerophthalmia is supplementation with high-dose vitamin A. A multivitamin regimen can be added for maintenance supplementation. Identification of zinc deficiency should also warrant zinc supplementation. Topical treatments such as preservative-free artificial tears and antibiotics can aid in providing symptomatic relief and treat any secondary bacterial infections from ocular disruption.1
If patients are diagnosed prior to the development of corneal ulcers, early treatment can restore vision.1 Bitot’s spots are likely to improve within two weeks of initiation of vitamin A supplementation, although manifestations of night blindness from retinal involvement may persist for longer.6,9
Few cases of vitamin A deficiency in children with autism spectrum disorder living in developed countries have been reported in the literature; in all cases, the children had selective diets leading to reduced vitamin A intake.10 This is a case of xerophthalmia in a non-verbal boy with autism spectrum disorder with vitamin A deficiency secondary to a restricted diet. This case was complicated by the patient’s non-verbal status, past medical history of eosinophilic esophagitis, and difficulty obtaining an ophthalmologic exam. Though vitamin A deficiency is uncommon in developed countries, earlier clinical suspicion and a thorough dietary history may have led to earlier diagnosis and treatment for this patient.
Testing for serum vitamin A levels should be considered in children with restrictive diets, especially in children with autism spectrum disorder presenting with visual changes.10 Referral to an ophthalmologist for a complete eye examination and electroretinogram can help establish the diagnosis and degree of retinal dysfunction. An exam under anesthesia may be necessary to aid in the clinical evaluation and identification of ocular findings. Night blindness from VAD is a reversible condition in the retina, with expected full recovery following vitamin A supplementation.7 As such, early and accurate diagnosis of vitamin A deficiency is of great clinical importance to reduce cases of preventable blindness.
Images or video:
Figure 1: External RetCam photographs. (A) Keratinized superior bulbar conjunctiva consistent with Bitot’s Spots. (B) Fluorescein staining of devitalized and keratinized bulbar conjunctival epithelium as well as an inferior corneal epithelial defect.
Summary of the Case:
This is a case of a 11-year-old non-verbal boy with autism, developmental delay, and eosinophilic esophagitis who presented with progressive vision loss, night blindness, and severe dry eye symptom. He was found to have Bitot’s spots and xerophthalmia secondary to vitamin A deficiency from a selectively restricted diet. Symptoms improved with vitamin A supplementation, moxifloxacin drops, and erythromycin ointment.
- Feroze KB, Kaufman EJ. Xerophthalmia. In: StatPearls. Treasure Island (FL): StatPearls Publishing 2021. Available at https://www.ncbi.nlm.nih.gov/books/NBK431094. Accessed September 23, 2021.
- Boyd K. What Is Vitamin A Deficiency? American Academy of Ophthalmology 2020. Available at https://www.aao.org/eye-health/diseases/vitamin-deficiency. Accessed September 23, 2021.
- Christian P, West KP Jr. Interactions between zinc and vitamin A: an update. Am J Clin Nutr 1998;68(2 Suppl):435S-441S.
- Gilbert C. The eye signs of vitamin A deficiency. Community Eye Health 2013;26(84):66-67.
- World Health Organization. Xerophthalmia and night blindness for the assessment of clinical vitamin A deficiency in individuals and populations. Vitamin and Mineral Nutrition Information System. Geneva: World Health Organization 2014. Available at http://apps. who.int/iris/bitstream/10665/133705/1/WHO_NMH_NHD_ EPG_14.4_eng.pdf?ua=1. Accessed September 23, 2021.
- Krishna U, Kamath SJ, Nayak MK. Management of Bitot’s Spots. EyeNet Magazine. Available at https://www.aao.org/eyenet/article/management-of-bitot-s-spots#chart. Accessed September 23, 2021.
- McBain VA, Egan CA, Pieris SJ, et al. Functional observations in vitamin A deficiency: diagnosis and time course of recovery. Eye (Lond) 2007;21(3):367-376.
- Dhanda RP. Electroretinography in Night Blindness and Other Vitamin-A Deficiencies. AMA Arch Ophthalmol 1955;54(6):841–849.
- Ross DA. Recommendations for vitamin A supplementation. J Nutr 2002;132(9 Suppl):2902S-2906S.
- Chiu M, Dillon A, Watson S. Vitamin A deficiency and xerophthalmia in children of a developed country. J Paediatr Child Health 2016 Jul;52(7):699-703.
Faculty Approval by: Griffin Jardine, MD
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