Table 1. Clinical and genetic characteristics of available members in this family.
| Family member | Age (years) | Sex | BCVA (OD, OS) | Fundus | OCT | Clinical diagnosis | Genotype |
|---|---|---|---|---|---|---|---|
| I:1 | 66 | Male | 20/20, 20/33 |
Normal | Normal | Asymptomatic | N/V2 |
| I:2 | 60 | Female | 20/250, 20/133 |
Normal | Normal | Short-sightedness | V1/N |
| II:1 | 35 | Male | 20/66, 20/200 |
Macular atrophy, yellowish flecks in RPE | Hyper-reflective deposition, retinal outer layers attenuation | STGD1 | V1/V2 |
| II:3 | 34 | Male | 20/20, 20/33 |
Normal | Normal | Asymptomatic | N/N |
| III:1 | 8 | Female | 20/20, 20/20 |
Normal | N/A | Asymptomatic | V1/N |
| III:2 | 6 | Male | 20/20, 20/25 |
Normal | N/A | Asymptomatic | V1/N |
Abbreviations: N, allele with wild-type; N/A, not available; OD, right eye; OS, left eye; V1, allele with c.3607G>T; V2, allele with c.6722T>C.