Case:

3-year-old girl presents as a referral with a complaint of “lazy right eye”

Initial evaluation:

• Parents reports that their daughter has a “slightly lazy right eye”
• Seen by pediatric ophthalmologist who reported abnormal pigmentation around the retina in the far periphery OU

Past Medical history:

• PMHx: Developmental Delay (Motor and Language), Hypotonia
• PSHx: Tethered spinal cord release
• POHx: Emmetropic, no surgery or trauma
• ROS: Negative
• FHx: No relevant
• Allergies: Seasonal allergies
• Rx: Zyrtec Children’s Tablet PRN

Motility: Full, Ortho

CVF: Full

Posterior:

• Nerve: CDR 0.3
• Vitreous: Clear
• Periphery: Avascular, flat, OU
• Macula: wnl

Summary of Exam Findings

Right Eye:

Flat retina with some straightening of the retinal vasculature as well as avascular peripheral retina with neovascularization.

Left Eye:

Similar to the right eye, but also with early traction retinal detachment.

Diagnosis

• Genetic testing reveals:
• CTNNB1 (B-Catenin) Vitreoretinopathy

Treatment

Laser retinopexy OU

Summary

• 3 yo girl with developmental delay and “lazy eye” per her parents, with peripheral retinal “abnormal pigmentation”, found to have CTNNB1 (B-Catenin) Vitreoretinopathy
• This gene should be included in genetic testing for FEVR, and should be considered when there are associated systemic findings
• If patients are initially diagnosed with this syndrome, that they should be screened with widefield FA

References

Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q. Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease. Invest Ophthalmol Vis Sci. 2019 Jan 2;60(1):93-97. doi: 10.1167/iovs.18-25142. PMID: 30640974.

Tipsuriyaporn, B. , Ammar, M. J. & Yonekawa, Y. (9000). Retinal Cases & Brief Reports, Publish Ahead of Print , doi: 10.1097/ICB.0000000000000990.

Pendergast SD, Trese MT. Familial exudative vitreoretinopathy. Results of surgical management.Ophthalmology. 1998;105(6):1015–23.