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Advanced xerophthalmia as a presenting sign in cystic fibrosis
K A Lindenmuth1, M Del Monte, L R Marino
1Department of Ophthalmology, W. K. Kellogg Eye Center, University of Michigan, Ann Arbor 48105.
Insights
Severe vitamin A deficiency caused eye problems in an infant, later diagnosed as cystic fibrosis. Prompt vitamin A treatment resolved the ocular symptoms, highlighting the importance of eye exams for diagnosing malabsorption disorders.
Area of Science:
- Ophthalmology
- Pediatrics
- Genetics
Background:
- Vitamin A deficiency is a leading cause of xerophthalmia, particularly in malnourished populations.
- Fat malabsorption syndromes can lead to vitamin A deficiency, presenting with diverse clinical manifestations.
Observation:
- A 16-month-old infant presented with severe photophobia and failure to thrive.
- Ophthalmic examination revealed corneal xerosis, conjunctival and corneal keratinization, and corneal stromal edema with opacification.
Findings:
- The infant's presentation suggested vitamin A deficiency secondary to fat malabsorption.
- Diagnostic workup confirmed cystic fibrosis as the underlying cause of fat malabsorption.
- Parenteral vitamin A supplementation led to complete resolution of ocular signs and symptoms.
Implications:
- This case underscores the critical role of a thorough ophthalmic examination in identifying fat malabsorption syndromes.
- Early diagnosis and intervention in vitamin A deficiency are crucial for preventing irreversible vision loss.
- Cystic fibrosis should be considered in the differential diagnosis of pediatric patients with unexplained xerophthalmia.
Abstract:
Xerophthalmia is a common complication of vitamin A deficiency in communities where malnutrition is found. We report on a 16-month-old infant with severe photophobia and failure to thrive. On examination, her major presenting sign was corneal xerosis, with corneal and conjunctival keratinization, and corneal stromal edema with opacification. Based on these findings, vitamin A deficiency secondary to fat malabsorption was suspected, and a workup confirmed the diagnosis of cystic fibrosis. With parenteral vitamin A supplementation, she had complete resolution of her ocular signs and symptoms. This case illustrates the value of a complete ophthalmic examination in the diagnosis of fat malabsorption syndromes.