Table 2 of
Kamakari, Mol Vis 2014; 20:691-703. Table 2 of
Kamakari, Mol Vis 2014; 20:691-703.
Table 2. Clinical and genetic characterization of probands and their relatives with ADOA.
| Family pedigree | Gender | Age at examination | Age of onset | Visual acuity (Right/left) | Optic nerve head | Color vision (OD=Right Eye, OS=Left Eye) | Mutation | Exon | Type of mutation |
|---|---|---|---|---|---|---|---|---|---|
| F1II5 | F | 59 | 7 | 1.0/1.3 | temporal pallor | 0/15 OD 0/15 OS | c.876_878delTGT, p.(Val294del) | 9 | In-frame deletion |
| F2II1 | M | 45 | 12 | 0.8/0.8 | temporal pallor | 14/15 OD 14/15 OS | c.784–1G>T | Intron 7 | Splice site Novel |
| F2III1 | F | 5 | 5 | 0.6/0.6 | temporal pallor | - | |||
| F3II11 | M | 50 | 10 | 0.1/0.2 | temporal pallor | 1/15 OD 1/15 OS | c.2366delA,p.(Asn789Metfs*11) | 24 | Frameshift |
| F3III24 | M | 15 | 10 | 0.2/0.3 | temporal pallor | 1/15 OD 1/15 OS | |||
| F4II1 | M | 43 | 10 | 0.4/0.3 | temporal pallor | 14/15 OD 14/15 OS | c.1140+5G>C | Intron 11 | Splice site |
| F4III1 | F | 6 | 6 | 0.4/0.2 | temporal pallor | 14/15 OD 14/15 OS |