Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report
Zuha Alkhaldi, Moosa Allawati, Nadia Alhashmi.
Abstract
Background: Anterior segment dysgenesis (ASD) is a developmental condition that affects the frontal part of the eyes. Genetic mutations in FORKHEAD BOX E3 can lead to a variety of ASD conditions.
Case Presentation: Here, we report a 2-year-old female patient with ASD type 2 autosomal recessive linked disease. Whole exome sequencing test was conducted and resulted in a missense mutation at position 120 altering arginine to proline. To our knowledge, this is the first case reported in Oman.
Conclusion: For patients with ASD, it is crucial to take the full family history and genetic work up to aid in the diagnosis and long-term management of the condition.
Key words: Case report, anterior segment dysgenesis, ASD, FOXE3.
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