Corneal opacification, an atypical presentation of cystic fibrosis: a case report and review of the literature

J Med Case Rep. 2022 May 12;16(1):188. doi: 10.1186/s13256-022-03410-x.

Abstract

Background: Respiratory and gastrointestinal manifestations are the main causes of mortality and morbidity in cystic fibrosis. Although these symptoms are well recognized, ophthalmic involvement of cystic fibrosis secondary to vitamin A deficiency is uncommon and has been reported very rarely in the medical literature.

Case presentation: Here, we report a 2.5-year-old Iranian boy who presented with bilateral corneal xerosis and corneal opacity secondary to vitamin A deficiency related to cystic fibrosis malabsorption.

Conclusion: Malabsorption of fat-soluble vitamins is a common presentation in cystic fibrosis, but corneal opacity secondary to vitamin A deficiency as the initial presentation of cystic fibrosis is a very rare manifestation of fat malabsorption. This highlights the importance of complete systemic examination besides ophthalmic examination in approaching a child with ophthalmic complaint.

Keywords: Atypical; Corneal opacity; Corneal xerosis; Cystic fibrosis.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child, Preschool
  • Corneal Opacity* / complications
  • Cystic Fibrosis* / complications
  • Cystic Fibrosis* / diagnosis
  • Humans
  • Iran
  • Male
  • Vitamin A Deficiency* / complications
  • Vitamin A Deficiency* / diagnosis
  • Vitamins / therapeutic use

Substances

  • Vitamins