Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy

DOI to cite this document:: 10.5283/epub.1217

Wabbels, B. ; Preising, M. N. ; Kretschmann, U. ; Demmler, A. ; Lorenz, B.

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Date of publication of this fulltext: 05 Aug 2009 13:25

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Abstract

AIM: Longitudinal course and genotype-phenotype correlation in patients and carriers with heterozygous mutations in hBEST1 (bestrophin). METHODS: Thirteen patients and seven possible carriers were characterised by mutation analysis with SSCPA and direct sequencing, clinical examination and fundus autofluorescence (AF). Electrophysiology (EOG and mfERG) and optical coherence tomography (OCT) were ...