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

• Published in: Journal of medical case reports 2022-05, Vol.16 (1), p.188-188, Article 188
• Main Authors: Farahbakhsh, Nazanin, Bagherian, Neda, Shabanpourhaghighi, Sajad, Khalilzadeh, Soheila, Tabatabaii, Seyed Ahmad, Khanbabaee, Ghamartaj
• Format: Article
• Language: English
• Subjects: Atypical; Case Report; Case reports; Child, Preschool; Cornea; Corneal opacity; Corneal Opacity - complications; Corneal xerosis; Cystic fibrosis; Cystic Fibrosis - complications; Cystic Fibrosis - diagnosis; Enzymes; Failure to thrive; Health aspects; Humans; Immunoglobulins; Iran; Male; Mortality; Patients; Pneumonia; Proteins; Tuberculosis; Vitamin A; Vitamin A Deficiency - complications; Vitamin A Deficiency - diagnosis; Vitamins - therapeutic use
• ISSN: 1752-1947; 1752-1947
• DOI: 10.1186/s13256-022-03410-x

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. 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. 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.