Corneal ulceration due to vitamin A deficiency in Zellweger syndrome

Jeffrey D Colburn1, Anna S Skelo, Sean P Donahue

  • 1Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.

Insights

Vitamin A deficiency can cause corneal ulcers in infants, especially those with Zellweger syndrome. Early diagnosis and oral vitamin A supplementation can reverse corneal opacification in these cases.

Area of Science:

  • Ophthalmology
  • Pediatrics
  • Genetics

Background:

  • Zellweger syndrome is a rare peroxisomal disorder.
  • Infants with Zellweger syndrome often present with failure to thrive and malnutrition.
  • Corneal ulcers can be a serious complication in infants.

Observation:

  • A 7-month-old infant with failure to thrive developed a corneal ulcer.
  • Antibiotic eye drops did not improve the corneal ulcer.
  • Vitamin A deficiency was suspected and subsequently confirmed.

Findings:

  • Oral vitamin A supplementation led to decreased corneal opacification.
  • Zellweger syndrome was diagnosed in the infant.
  • This case highlights a link between Zellweger syndrome, vitamin A deficiency, and corneal ulcers.

Implications:

  • Vitamin A deficiency should be considered in the differential diagnosis of nonhealing corneal ulcers in infants.
  • Early identification and treatment of vitamin A deficiency are crucial in infants with failure to thrive and systemic syndromes.
  • This case underscores the importance of nutritional assessment in pediatric patients with complex genetic disorders.

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