Abstract
Purpose :
To report clinical characteristics, ocular features, and management of vitreoretinopathy in patients with CTNNB1 mutation.
Methods :
Retrospective chart review of patients with CTNNB1 referred to ophthalmology who had undergone fluorescein angiography.
Results :
Four patients with CTNNB1 mutation in total were identified, only three of whom had fluorescein angiography available and were included in the study. Of the three patients of interest, clinical exam was determined to be normal, and vitreoretinopathy was identified only with the angiogram and exam under anesthesia. All three patients were diagnosed with CTNNB1 mutation via whole exome sequencing. Average age at genetic diagnosis was 24 months (range 12-35 months). Average age at diagnosis of vitreoretinopathy was 6 years (2-9 years). All patients were noted to have microcephaly, developmental delay and axial hypotonia. One patient had precocious puberty, one patient had failure to thrive and feeding tube dependence and one patient had ventricular septal defect. General ophthalmic history included strabismus requiring surgery in two patients, hyperopia requiring spectacles in one patient and chalazion requiring surgical drainage in one patient. Vitreoretinopathy as diagnosed with by fluorescein angiography was stage 1 bilaterally in one patient, stage 3A right eye and stage 1 left eye in one patient, and stage 2A right eye and stage 1 left eye in one patient. Management included scleral buckle and laser for stage 3A, and laser alone for stage 2A and stage 1.
Conclusions :
All patients with genetic diagnosis of CTNNB1 mutation should undergo comprehensive ophthalmologic screening exam with fluorescein angiography at the time of diagnosis preferably under anesthesia. Similarly, patients with vitreoretinopathy and syndromic features consistent with CTNNB1 syndrome should be considered for whole exome testing.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.