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Near-infrared fundus autofluorescence in subclinical best vitelliform macular dystrophy.
Parodi MB, Iacono P, Del Turco C, Bandello F. Parodi MB, et al. Am J Ophthalmol. 2014 Dec;158(6):1247-1252.e2. doi: 10.1016/j.ajo.2014.08.028. Epub 2014 Aug 28. Am J Ophthalmol. 2014. PMID: 25174897
RESULTS: Forty-six patients showing mutations in the BEST1 gene were examined. Forty patients presented a bilateral Best vitelliform macular dystrophy, 2 patients showed a unilateral Best vitelliform macular dystrophy, and 4 patients had a bilateral su …
RESULTS: Forty-six patients showing mutations in the BEST1 gene were examined. Forty patients presented a bilateral Best vitelliform …
Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.
Boon CJ, Klevering BJ, den Hollander AI, Zonneveld MN, Theelen T, Cremers FP, Hoyng CB. Boon CJ, et al. Arch Ophthalmol. 2007 Aug;125(8):1100-6. doi: 10.1001/archopht.125.8.1100. Arch Ophthalmol. 2007. PMID: 17698758
METHODS: All patients and, if possible, affected family members underwent an ophthalmic examination and their genomic DNA was analyzed for mutations in the vitelliform macular dystrophy 2 (VMD2) gene. Patients who did not have a mutation in the VMD2 ge …
METHODS: All patients and, if possible, affected family members underwent an ophthalmic examination and their genomic DNA was analyzed for m …
Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).
Krämer F, Mohr N, Kellner U, Rudolph G, Weber BH. Krämer F, et al. Hum Mutat. 2003 Nov;22(5):418. doi: 10.1002/humu.9189. Hum Mutat. 2003. PMID: 14517959
Mutations in the vitelliform macular dystrophy 2 (VMD2) gene encoding besrtophin are responsible for Best macular dystrophy (BMD), a juvenile-onset autosomal dominant disorder of the central retina. ...
Mutations in the vitelliform macular dystrophy 2 (VMD2) gene encoding besrtophin are responsible for Best macula …