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Exudative Vitreoretinopathy and Vasoproliferative Retinal Lesion in CTNNB1 Syndrome
Louis K Aghanwa1, Aliaa Abdelhakim2,3, Brian Marr2,3
1Donald & Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, USA.
Purpose:
To describe the presentation, management, and genetic diagnosis of a young adult with CTNNB1-associated vitreoretinopathy and a vasoproliferative retinal tumor.
Methods:
A single case was evaluated.
Results:
A 22-year-old woman presented with progressive tractional changes in the left eye due to a peripheral vasoproliferative retinal tumor and exudative retinal detachment. She underwent primary vitrectomy with membrane peeling, endolaser, cryotherapy, and intravitreal antivascular endothelial growth factor, followed by vitrectomy and scleral buckling for recurrent detachment. Additional findings included contralateral chorioretinal coloboma and high refractive error. Retinal reattachment and vasoproliferative retinal tumor involution were achieved with surgery. Fluorescein angiography revealed peripheral avascularity in the right eye and leakage from the vasoproliferative retinal tumor in the left. Exome sequencing identified a heterozygous de novo CTNNB1 variant, consistent with CTNNB1-associated syndrome. This case expands the known ophthalmic phenotype to include secondary vasoproliferative retinal tumor complicating CTNNB1-associated vitreoretinopathy.
Conclusions:
Discrete vasoproliferative retinal tumor and chorioretinal coloboma represent underrecognized features of CTNNB1-related vitreoretinopathy. Early recognition, surgical intervention, and genetic testing are critical in young patients with atypical vitreoretinal disease.