A 5-YEAR-OLD boy with severe autism was referred to the corneal and external disease service with a history of bilateral corneal ulceration. The referring ophthalmologist had examined the child under anesthesia and noted an active corneal ulcer in the right eye and a healed ulcer in the left eye. The patient's mother stated that his eyes had appeared red and that he was light sensitive for several weeks, rubbing both eyes frequently during this time. She also noted that the child appeared to be clumsy, bumping into and falling over furniture inside the house.
Lash hypertrichosis and refractile scales on skin over nasal bridge (hyperkeratosis).
Right eye shows vasodilation, diffuse rose Bengal staining, and a corneal infiltrate.
Left eye shows rose Bengal staining and Bitot spots at the superior limbus.
Fundus of the left eye shows yellow flecks at the level of the retinal pigment epithelium.
Conjunctival biopsy specimen shows epidermalization with surface keratinization (hematoxylin-eosin, original magnification ×100).
Keratomalacia with central descemetocele.
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