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N. C. Kerr, A. Iannaccone, J. I. Calzada, T. R. Kinnick, E. M. Stone; Bilateral Neovascular Membranes in a Child With Early-onset Autosomal Recessive Best's Vitelliform Macular Dystrophy (arBVMD) Due to Compound Heterozygosity for VMD2/BEST1 Mutations. Invest. Ophthalmol. Vis. Sci. 2009;50(13):6271.
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To report the rare case of a child with early-onset arBVMD and VMD2/BEST1 mutations, the successful management of neovascular membranes (NVMs) with intravitreal bevacizumab, and the findings in the carrier parents.
A 5yo Caucasian girl presented with monocular visual acuity loss and bilateral atypical vitelliform macular lesions. Examination of the proband and her parents included EOGs, OCTs, fluorescein angiograms, autofluorescence (AF) and Diagnostic VMD2/BEST1 gene testing.
Vision at presentation was 20/200 OD with an atypical subfoveal vitelliform scar, and 20/16 OS with asymptomatic vitelliform deposits. Bilateral subfoveal NVMs developed at age 6, causing marked vision loss OS (20/200). Visual acuity was restored to, and maintained at 20/25 in OS (follow-up: 6-mo.) after serial 1.25mg intravitreal bevacizumab injections performed under anesthesia. The EOG Arden ration was 1.1 OD and 1.4 OS (normal > 1.65). Diagnostic VMD2/BEST1 gene testing showed compound heterozygosity of the proband for the Arginine-to-Serine (R141S) and Arginine-to-Histidine (R141H) mutations. Fundus exam, AF, OCTs and EOGs were normal in the carrier parents.
Early-onset arBVMD due to VMD2/BEST1 mutations may be associated with NVMs, which were successfully treated in this patient at age 6. Patients presenting with this picture should be screened for VMD2 mutations even when the parents have normal EOG and imaging results.
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