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P. Luke, G. Zaidman; Masquerading Metabolic Corneal Diseases in the Pediatric Population. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2378.
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To describe metabolic corneal disorders that masquerade as common corneal findings in the pediatric population.
Two case reports
A 12 year-old Autistic male (Patient A) presented to our clinic with 2 months of bilateral eyelid swelling and itching. On exam, a confluent patch of extreme drying in both conjunctivae and corneas was noted, staining positive with fluorescein. Treatment for presumed allergic conjunctivitis failed previously to resolve his symptoms. Fundoscopic exam under anesthesia revealed atrophy of the papillomacular bundle of the nerve fiber layer and temporal pallor of both optic discs. An ERG was normal, however, blood samples for Vitamin A, B12, and folate were found to be low. Given these findings, he was diagnosed with secondary xerophthalmia due to vitamin A deficiency and nutritional optic neuropathy. Treatment with aggressive ocular lubricants, supplemental vitamin A, B12, folate and multivitamins resulted in resolution of his corneal findings.A 16 month-old female (Patient B) presented with 3 months of tearing, redness, and photophobia. Despite treatment with Viroptic and oral acyclovir for presumed herpes keratitis, she continued to show signs of recurrent bilateral dendritic keratitis. An irregular persistent dendritic-appearing central corneal reflex was noted in each cornea and did not stain with fluorescein. Subsequently, serology testing revealed a high serum tyrosine level (182.4 mmol/mol). Therefore, the diagnosis of pseudodendritic keratitis due to tyrosinemia was made.
We describe two cases of metabolic corneal disorders masquerading as common corneal findings: tyrosinemia-related pseudodendritic keratitis as herpes keratitis and vitamin A deficiency xerophthalmia presenting as allergic conjunctivitis. Though rare, such metabolic corneal disorders are important to recognize for proper treatment in the pediatric population, especially when patient cooperation is poor.
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