IMAGE OF THE MONTH: March 2024

Depth perception problems

Submitted by Maxwell Stem, MD - Pennsylvania Retina Specialists, PC

22 month old with a h/o autism spectrum disorder, lipomyelomeningocele, failure to thrive, and intellectual disability born at 34 weeks gestational age referred for "depth perception problems"

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DIAGNOSIS: Familial Exudative Vitreoretinopathy (FEVR)

The patient presented with profound peripheral retinal ischemia OD > OS and a retinal fold in the right eye.  The DDx included ROP, FEVR, Coats Disease, and Norrie Disease. He underwent genetic testing which revealed a mutation in the CTNNB1 gene.  This gene encodes a protein called β-catenin, which plays a role in Wnt signaling.  Abnormalities in the Wnt signaling pathway are associated with FEVR.

The patient underwent peripheral pan-retinal photocoagulation to the areas of ischemic retina in both eyes.

Acknowledgements:

Cagri Besirli, MD, PhD

Catherine Keegan, MD, PhD

Max Dixon, MD

Dixon MW, Stem MS, Schuette JL, Keegan CE, Besirli CG. CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype. Ophthalmic Genet. 2016;37(4):468-470.

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