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Xerophthalmia and cystic fibrosis
H L Brooks1, W T Driebe, G G Schemmer
1Vitreoretinal Foundation, Memphis, Tenn.
Insights
Xerophthalmia, a sign of vitamin A deficiency, can indicate underlying cystic fibrosis in infants. Early diagnosis and vitamin A treatment are crucial, though careful monitoring for increased intracranial pressure is advised.
Area of Science:
- Ophthalmology
- Pediatrics
- Genetics
Background:
- Vitamin A deficiency can cause xerophthalmia, a serious eye condition.
- Xerophthalmia presents with conjunctival and corneal xerosis, potentially mimicking other ocular conditions.
- Infants with failure to thrive may present with subtle signs of vitamin A deficiency.
Observation:
- Two infants with failure to thrive exhibited conjunctival and corneal xerosis.
- One infant presented with corneal ulcerations and hypopyon; the other with excessive tearing.
- These symptoms led to the suspicion of xerophthalmia secondary to vitamin A deficiency.
Findings:
- Vitamin A deficiency was diagnosed in both infants, linked to underlying cystic fibrosis.
- Vitamin A supplementation effectively resolved the xerosis in both cases.
- Transiently elevated intracranial pressure was observed following vitamin A therapy.
Implications:
- Xerophthalmia can be an indicator of malabsorption disorders like cystic fibrosis, even in developed nations.
- Prompt diagnosis and treatment of vitamin A deficiency are vital for preventing irreversible vision loss.
- Monitoring for increased intracranial pressure is recommended during vitamin A repletion therapy in at-risk infants.
Abstract:
We treated two infants with failure to thrive who presented with clinical evidence of conjunctival and corneal xerosis. One patient was referred with possible infectious corneal ulcer thought to exist because there were deep peripheral ulcerations of the cornea and associated hypopyon. The other patient was initially thought to have a nasolacrimal duct obstruction because of excessive tearing. Xerophthalmia secondary to vitamin A deficiency was suspected and led to the diagnosis and treatment of cystic fibrosis in each case. Therapy with vitamin A promptly resolved the xerosis, but it also caused a transient rise in intracerebral pressure. Xerophthalmia can still be a problem in developed countries when underlying disorders, such as cystic fibrosis, lead to vitamin A malabsorption.