Neurotrophic keratitis in a patient with dihydroxypyrimidine dehydrogenase deficiency

Abstract

We describe a case of neurotrophic keratitis in association with dihydroxypyrimidine dehydrogenase (DHPD) deficiency. Ocular manifestations in patients with DHPD are rare and neurotrophic keratitis has never been reported before. A six-year-old boy who was a known case of DHPD deficiency and born of a consanguineous marriage presented to our clinic with non-healing corneal ulcers in both eyes. Reduced corneal sensations were detected and the patient was started on lubricating eye drops. The patient continues to be on lubricant eye drops and there has been no recurrence of the disease.

Keywords

• Dihydroxypyrimidine dehydrogenase deficiency
• neurotrophic keratitis
• pyrimidine metabolism disorders