PMC3032275_01
Pedigree of the family studied and segregation of the BEST1 mutant alleles. This figure shows the pedigree of a french family displaying an unusual phenotype reminiscent of very atypic bestrophinopathy. The clinical status of I-1 and I-2 are unknown. The red shapes denote genotyped individuals. White circles represent unaffected females, filled circles affected females, white squares represent unaffected males and filled squares affected males. The p.Y5X mutation is shown in gray and the p.S144G mutation is shown in black. Individual III-1 (the proband) harbors both mutations.
mv-v17-309-f1.jpg
PMC3032275_01_mv-v17-309-f1.jpg
f1
We performed a genetic analysis and a complete ophthalmological examination of eight members of a single family (Figure 1), one of whom was diagnosed with BVMD.
PMC3032275_02