Vision loss in a child with autism spectrum disorder.

A 10-year-old boy was referred to the Ophthalmology service at a paediatric tertiary care centre with a 2-month history of tearing and squinting. In the week prior to assessment, he had experienced what seemed to be a drastic decrease in his visual acuity, suddenly ‘needing to feel his way along the walls’ at home. Past medical history was significant for autism spectrum disorder (ASD). There was no history of ophthalmologic concerns, and the patient had not had an eye exam previously. Review of systems identified a restricted diet, consisting of chocolate bars, buttered popcorn, french fries, fresh buns, bottled water and soft drinks. The patient’s limited food repertoire had been longstanding and, by parents’ report, had preceded the ASD diagnosis. There had not been regular intake of fruits or vegetables in years. There was no history of oral ulcers, skin rash, diarrhea, steatorrhea or weight loss. The patient was not taking any regular medications, vitamins, herbal products or supplements. Weight was at the 25th percentile for age. Height could not be obtained because the patient was unable to cooperate. General physical exam was unremarkable. On ophthalmologic exam, the patient had only ‘hand motion’ visual acuity and was not able to fix-and-follow toys, faces or lights. Numerous abnormalities were identified: (1) corneal and conjunctival keratinization with punctate epithelial erosions; (2) dull and irregular light reflex, also indicating abnormal keratinization; (3) scaly, dry patch with foamy appearance and (4) mild optic nerve edema in both eyes (Figures 1 and 2). An MRI head was performed, showing bilateral papilledema with possible narrowing of the optic canals (Figure 3).