Utility of Fluorescein Angiography for Early Detection of Familial Exudative Vitreoretinopathy in Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects due to CTNNB1 Variants.

Abstract

Purpose: To investigate whether wide-angle fluorescein angiography (FA) was useful for detecting familial exudative retinopathy (FEVR) in patients with neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV).

Methods: This was a retrospective chart review from 2013 to 2023 of all consecutive patients with NEDSDV and pathogenic or likely pathogenic CTNNB1 variants.

Results: Seven patients (four females, three males) were seen in the ophthalmology clinic (median age: 14 months). One patient presented with a retinal fold in one eye, was observed without FA, and later developed a tractional retinal detachment involving the macula in the contralateral eye. Another patient observed without FA lost vision due to vitreous hemorrhage. Five patients who lacked signs of FEVR in clinic underwent FA under anesthesia; three showed retinal neovascularization or leakage requiring treatment, one showed mild avascularity, and one was normal.

Conclusions: Despite reassuring eye examinations in the clinic, two patients with NEDSDV experienced vi- sion loss from FEVR, and three patients were found by FA to require treatment. FA aided in the detection of FEVR in these patients. [J Pediatr Ophthalmol Strabismus. 20XX;X(X):XXX-XXX.].