Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a genetic disease described in 2012 associated with variants in the CTNNB1 gene which encodes beta-catenin. Characteristics include strabismus, reduced visual acuity and familial exudative retinopathy (FEVR). In this study, the authors retrospectively review a cohort of 7 consecutive patients (4 female, 3 male, all white) to assess the utility of wide-angle fluorescein angiography (FA) for early detection of FEVR in this group. None had family history of NEDSDV, all had developmental delay, all had global fine motor and gross motor delays and 6 had speech delay. All CTNNB1 variants were inherited de novo and were heterozygous. Median age at first ophthalmology assessment was 14 months. Five had strabismus, 2 with nasolacrimal obstruction, one nystagmus, 6 amblyopia and 6 with refractive error. Median age at last visit was 8 years. There was no FEVR in 6 patients. One had a unilateral retinal fold detected on initial dilated clinical assessment. All were referred for wide angle FA; 6 conducted under general anaesthesia. Two had vision loss from FEVR complications. Another 3 had retinal neovascularisation or vascular leakage requiring laser treatment (stage 1b to 2b), one with mild vascular changes (stage 1a) and one with normal retinal vasculature (stage 1, i.e. no FEVR). Median age at FEVR diagnosis was 8 years. Wide angle FA was necessary for diagnosis in this cohort as had been missed by general ophthalmology assessment. This study recommends wide angle FA at least once for every patient with NEDSDV once the diagnosis has been confirmed by genetic testing. This is important as early as possible as FEVR can progress rapidly in early life. Diagnosis will help prevent late complications due to undiagnosed FEVR.
Recommendation for wide angle fluorescein angiography to diagnose FEVR in NEDSDV
Reviewed by Fiona Rowe
Utility of fluorescein angiography for early detection of familial exudative vitreoretinopathy in neurodevelopment disorder with spastic diplegia and visual defects due to CTNNB1 variants.
CONTRIBUTOR
Fiona Rowe (Prof)
Institute of Population Health, University of Liverpool, UK.
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