Work

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

Year: 2024

Type: article

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 vision 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 . 2025;62(3):166–172.]

Source: Journal of Pediatric Ophthalmology & Strabismus

DOI: 10.3928/01913913-20241122-01

Authors: Guillermo A. Requejo Figueroa, Denise J. Morgan, Griffin J. Jardine, Marielle P. Young, Eileen S. Hwang

Institutions: University of Utah, University of Utah Health Care

Language: English

Topic: Retinopathy of Prematurity Studies

Subfield: Radiology, Nuclear Medicine and Imaging

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Heart, Lung, and Blood Institute, National Eye Institute