Anterior segment dysgenesis with bilateral acorea and microphthalmia associated with compound heterozygous FOXE3 pathogenic variants: outcomes after optical iridectomy

Management is complicated when standard visual function tests, such as flash VEP, fail to record.</p> <p>A 1 month old boy with bilateral microphthalmia and congenital acorea underwent slit lamp exam, ultrasound biomicroscopy, B scan ultrasonography, flash VEP, and MRI.

Whole exome sequencing was performed to identify a genetic cause.</p> <p>Whole exome sequencing identified compound heterozygous FOXE3 variants: a novel missense variant c.477C>G (p.Ser159Arg) inherited from the mother, and a known likely pathogenic nonsense variant c.720C>A (p.Cys240*) inherited from the father. This is consistent with autosomal recessive anterior segment dysgenesis type 2. Flash VEP was non-recordable, but imaging showed intact posterior segment anatomy, and the patient proceeded to bilateral optical iridectomy with pupilloplasty and anterior vitrectomy.