Ultra-widefield Fluorescein Angiography and OCT Findings in Children and Young Adults with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV)

PurposeAutosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a rare genetic (CAPN5) autoimmune condition typically diagnosed in adulthood and characterized by a triad of inflammation, retinal degeneration and neovascularization. We report novel multimodal imaging findings in children and young adults with ADNIV and early treatment response to short-duration local and/or systemic corticosteroids.DesignRetrospective consecutive case series.ParticipantsTen patients under the age of 25 with ADNIV and available multimodal imaging.MethodsThe medical records of patients under the age of 25 with a diagnosis of ADNIV with ultra-widefield fluorescein angiography (UWFFA) and optical coherence tomography (OCT) data were reviewed.Main Outcome MeasuresUWFFA and OCT findings at baseline and following local corticosteroids.ResultsMedian age at presentation was 14 years (range 9-24 years). OCT on presentation demonstrated CME in 8/20 eyes and symptomatic vitreoretinal interface disease in 2/20 eyes. Initial UWFFA demonstrated retinal vascular leakage (20/20 eyes, 100%), peripheral non-perfusion (13/20 eyes, 65%), and retinal neovascularization (6/20 eyes, 30%). Retinal vascular leakage improved with local corticosteroids and neovascularization regressed with anti-VEGF therapy.ConclusionsUWFFA findings of prefibrotic ADNIV reported in adults were also present in children and young adults. Early testing for a pathogenic CAPN5 variant in at-risk children and regularly scheduled screening for uveitis and retinal vasculitis with UWFFA and OCT may prompt earlier intervention. Short duration local steroids are effective at treating retinal vascular leakage and macular edema but are not durable suggesting a potential role for steroid-sparing immunosuppressive therapy. Early treatment may alter the natural history of disease.