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- W3160302209 abstract "Background/Purpose: To describe the association between autosomal dominant Best disease and peripapillary angioid streak-like changes. Methods: Case report of two siblings. Results: A 76-year-old White man was referred for evaluation of bilateral macular changes and worsening visual distortion over the preceding 2 years. Best-corrected visual acuity measured 20/30 in the right eye and 20/80 in the left eye. Funduscopic examination revealed multifocal yellow lesions in the posterior pole that were hyperautofluorescent on short-wavelength excitation and corresponded with subretinal hyperreflective material on optical coherence tomography. The posterior pole examination was interesting because of the juxtapapillary involvement of the vitelliform lesions and the presence of bilateral peripapillary angioid streak-like changes despite no history of conditions associated with angioid streaks. On further workup, an electrooculogram revealed reduced Arden ratios and a known heterozygous missense mutation in BEST1 (c.903T>G; p .D301E) was found. The patient's 69-year-old younger brother was brought in and found to have a remarkably similar phenotype, including the presence of angioid streak-like changes associated with the same BEST1 mutation. Conclusion: These two cases demonstrate the possibility of late-onset multifocal vitelliform disease due to dominantly inherited BEST1 . A consistent phenotype in this family with macular lesions extending into the peripapillary region, associated with angioid streak-like changes, suggests susceptibility of this region to changes in dominant BEST1 -vitelliform macular dystrophy." @default.
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- W3160302209 date "2023-05-01" @default.
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- W3160302209 title "ADULT-ONSET BEST1-VITELLIFORM DYSTROPHY ASSOCIATED WITH ANGIOID STREAK-LIKE CHANGES IN TWO SIBLINGS" @default.
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- W3160302209 doi "https://doi.org/10.1097/icb.0000000000001164" @default.
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