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Senad Osmanovic, Clement Chow, Norman Blair; 30 Year Clinical Follow-Up of Original Family With Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC). Invest. Ophthalmol. Vis. Sci. 2013;54(15):681.
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To present the clinical characteristics, including visual acuity (VA), retinal findings, imaging studies, and management of complications over a 30-year period in the original family where Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) was documented.
Charts were reviewed for longitudinal data over a 30 year-period on the original series of 6 family members of the first ADVIRC cohort, as well as any available members of future generations. Relevant data included visual acuity, visual field testing, fundus photography, fluorescein angiography, OCT and other ancillary testing modalities. Patients' clinical course were assessed for development of any structural or functional ocular complications.
The pedigree of interest was a three-generation family of Welsh extraction. One of the original 6 patients described had expired and 2 did not have sufficient longitudinal data. 3 patients, including the proband, underwent regular ophthalmologic examinations consisting of frequent visual acuity measures,fields, and multimodal retinal imaging. In total, 6 of 9 family members and 5 of 8 living family members examined had findings consistent with ADVIRC. These included, most prominently, a 360 degree discrete circumferential band of hyperpigmentation, that evolved to varying degrees since initial description. One member (the proband) had worsening bilateral cystoid macula edema that was recalcitrant to treatment, with final visual acuities of 20/200 and 20/400. He additionally developed moderate contraction of his visual fields. One patient developed ERM necessitating vitrectomy, with final visual acuities of 20/30. The 86-year old father of the proband demonstrated marked chorioretinal atrophy peripheral to the arcades, which evolved significantly from previous hyperpigmentary lesions. The proband underwent genetic sequencing and was found to have a mutation in the bestrophin-1 gene.
Follow-up of patients with ADVIRC over an extended period revealed intra-familial variability in clinical course and severity. Pathologic characteristics and structural changes such as recalcitrant macular edema and early-onset cataract were evident. In the proband the disease appears to have progressed slowly, resulting in significant visual compromise. The relatively well-demarcated pigmentary band, a hallmark of ADVIRC, did demonstrate temporal evolution in our patients.
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