Article
Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.
Eye (London, England) - 1 Feb 2011
Cohn A C, Turnbull C, Ruddle J B, Guymer R H, Kearns L S, Staffieri S, Daggett H T, Hewitt A W, Mackey D A
Abstract excerpt
PURPOSE: (1) To evaluate the spectrum of BEST1 mutations within Australian Best Disease or vitelliform macular dystrophy (VMD) pedigrees, including any novel mutations; (2) to analyse the range of clinical presentations of this cohort; (3) to determine any possible genotype-phenotype correlations and (4) to compare clinical data of patients with phenotypic VMD, both with and without a BEST1 mutation. PATIENTS AND...
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