[Best's disease with normal EOG. Case report of familial macular dystrophy].
Best's disease is an autosomal dominant disorder with incomplete penetrance and variable expression. A typical characteristic of Best's disease is a pathological EOG. We describe four members of a family with bilateral, subfoveal vitelliform lesions. The EOG was normal in all cases. Genetic analysis of the oldest son indicated a heterozygotic mutation Ala234Val in the VMD2 gene, so-called bestrophin gene, which is associated with Best's disease. Molecular genetic analysis also found Best's disease with a normal EOG. A normal EOG cannot exclude Best's disease. The family members should receive genetic consultation and if wished analysis of the VMD2 gene.
Pollack
K
K
Universitätsaugenklinik, Dresden. katharina.pollack@uniklinikum-dresden.de
Kreuz
F R
FR
Pillunat
L E
LE
D000328:Adult; D000075002:Bestrophins; D018118:Chloride Channels; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D004252:DNA Mutational Analysis / Q000379:methods; D003951:Diagnostic Errors; D004585:Electrooculography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D015994:Incidence; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D018570:Risk Assessment / Q000379:methods; D012307:Risk Factors
C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins