Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report

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. [JBCGenetics 2023; 6(1.000): 75-79]

Keywords

• case report
• anterior segment dysgenesis
• asd
• foxe3