A 6-year-old boy with severe autism spectrum disorder (ASD) was brought to the hospital by his mother for whitening in the right eye. The patient was nonverbal at baseline and exhibited restrictive and repetitive behaviors. His diet consisted exclusively of cookies, apples, potato chips, and Gatorade. His mother noticed him frequently rubbing his eyes for several weeks, which she initially attributed to new-onset allergies. She did not describe any reduction in visual function or ability to perform low-luminance tasks.
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Xerophthalmia and keratomalacia from vitamin A deficiency
B. Check serum vitamin A levels
The clinical examination revealed bilateral xerophthalmia, a manifestation of vitamin A deficiency. Thus, serum vitamin A levels should be checked (choice B). While vitamin A deficiency is one of the most common causes of malnutrition in low-income countries, it is rarely seen in high-income countries.
In 2009, the World Health Organization estimated that 5.2 million preschool-aged children had night blindness and 190 million had low serum retinol concentrations.1 Those with a serum retinol concentration of less than 20.06 μg/dL (to convert to micromoles per liter, multiply by 0.0349) are vitamin A deficient, and severe deficiency is indicated at levels below 10.03 μg/dL.1 Eye findings include hyperemia, conjunctival and corneal keratinization, and Bitot spots. Yellow or white punctate peripheral retinal lesions may be seen, indicating photoreceptor dysfunction. Pediatric idiopathic intracranial hypertension and nerve atrophy have also been associated with vitamin A deficiency.2,3 Children with ocular signs of vitamin A deficiency have reduced immunity and a higher mortality rate.3,4
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CME Disclosure Statement: Unless noted, all individuals in control of content reported no relevant financial relationships. If applicable, all relevant financial relationships have been mitigated.
Corresponding Author: Jennifer Park, MD, Department of Ophthalmology, SUNY Downstate Medical Center, SUNY Downstate Health Sciences University, 450 Clarkson Ave, New York, NY 11203 (email@example.com).
Published Online: April 21, 2022. doi:10.1001/jamaophthalmol.2022.0018
Conflict of Interest Disclosures: None reported.
Additional Contributions: We thank the patient’s parents for granting permission to publish this information.
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