Figure 2. DNA sequence analysis of exon 8 and flanking sequences of the OPA1 gene in family F2. A: Pedigree F2. The arrow indicates the proband. Affected and unaffected individuals are represented with black and open circles, respectively. Males are represented with a quadrant and females with a circle. The asterisk sign indicates individuals both clinically and genetically examined. B: Mutant sequence in proband F2 II:1. The antisense sequence confirmed the same splicing site mutation. C: Normal sequence. The arrows in B and C indicate the position of the G to T substitution at the 3′ acceptor splice site of intron 7 (c.784–1G>T).