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• W2168570327 abstract "Adult-onset vitelliform macular dystrophy (AVMD) was described by Gass in 1974 [1]. It presents with funduscopic findings overlapping Best disease [1]. The primary feature is a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region. The lesion is one-third to onehalf of disk diameter in size, either round or slightly oval, and with an occasional pigment spot in the center. The clinical presentation of AVMD, however, differs from Best macular dystrophy. The onset occurs later in life, usually after the age of 30, and presenting symptoms include blurred vision and metamorphopsia. The progression of visual loss is slow and most patients maintain reading vision in at least one eye in spite of later degenerative changes [2,3]. The vitelliform lesion typically disappears later in life. The electrooculogram is usually normal or subnormal, while the lectroretinogram and color vision are typically normal. The genes encoding RDS and VMD2 have been implicated in some cases of AVMD. To date, 9 different mutations spanning all three exons of the RDS gene have been documented in AVMD patients [4-8]. VMD2 mutations were detected in approximately 96% of patients with Best macular dystrophy with a family history [9]. Five different VMD2 mutations have also been found in patients with AVMD [1012]. Two of these mutations have been reported in families with Best disease. The genetic heterogeneity underlying macular dystrophies with adult-onset vitelliform phenotype is largely unknown. The goal of this study was to determine the prevalence of mutations in the genes encoding VMD2 and RDS in pathogenesis of macular dystrophies with onset of vitelliform lesions in adulthood. Entire coding regions of these two genes were screened for mutations in 12 unrelated patients diagnosed with AVMD. We show that mutations in VMD2 and RDS are uncommon causes of AVMD." @default.
• W2168570327 created "2016-06-24" @default.
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• W2168570327 date "2006-07-24" @default.
• W2168570327 modified "2023-09-26" @default.
• W2168570327 title "Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion." @default.
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