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
- 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)
- 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.