Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy
A patient with no family history of retinal disease presented to the Bascom Palmer emergency room with 4 days of floaters in her right eye. Her VA was 20/30 and her intraocular pressure was normal. She was found to have vitreous hemorrhage and a peripheral neovascular lesion. Fluorescein angiography revealed circumferential vessels in both eyes with peripheral non-perfusion and late leakage. Autofluorescence demonstrated mildly hyperfluorescence in the macula of both eyes. OCT revealed mild subfoveal fluid in the inner nuclear layer. No significant intraocular inflammation was observed. The patient was treated with intravitreal bevacizumab and proceeded to have worsening vitreous hemorrhage. She received a second treatment with intravitreal bevacizumab and upon return to clinic she was found to have a macular off retinal detachment. The patient underwent scleral buckling and pars plana vitrectomy with C3F8 gas tamponade. Genetic testing revealed a CAPN5 VUS mutation. She has remained attached on follow-up with recovery of VA to 20/50.
Presentation Date: 12/02/2021
Issue Date: 12/17/2021
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