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

DOI zum Zitieren dieses Dokuments:: 10.5283/epub.1217

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

PDF
(508kB) - Nur für Mitarbeiter des Archivs

Veröffentlichungsdatum dieses Volltextes: 05 Aug 2009 13:25

Alternative Links zum Volltext:DOI Pubmed Verlag

Details

Bibliographische Daten exportieren

Zusammenfassung

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 ...