CASE OF THE MONTH: May 2022

Surgical Treatment of Bilateral Stage 5 Traction Retinal Detachment in a 6-month-old Girl with 18p Deletion and FZD4 Mutation

Taku Wakabayashi, Samir Patel, Yoshihiro Yonekawa; Wills Eye Hospital, Mid Atlantic Retina

Case:

  • 6-month old female
  • Born at 35 weeks (2085 g)
  • Chief complaints
    • ✓ "Can't see anything"
  • Past medical history
    • ✓ Hypotonia
    • ✓ Laryngomalacia
    • ✓ Developmental delay

Bilateral Stage 5 Traction retinal detachment



After surgery (OS)


Discussion

  • Genetic testing revealed
    • FZD4 Variant: c.205C>T (p.H69Y)
    • 18p deletion
  • Every reported FEVR with p.H69Y has had relatively mild or no retinal changes.
  • There is no report of FEVR-like features in 18p deletion syndrome.
  • However, molecular link between TGIF1 gene located in the 18p and Wnt/β-catenin signaling may underlie the severe phenotype in the current patient.