Table 2.
Clinical characteristics in HM2 family and sporadic HM patient M21227
| ID | Sex | Age | Status | Refraction (D) | Axial length (mm) | Genotype | ||
| OD | OS | OD | OS | |||||
| HM2-I:1 | M | 85–90 | Normal | Plano | Plano | NA | NA | WT |
| HM2-II:1 | M | 60–65 | Normal | Plano | Plano | NA | NA | WT |
| HM2-II:2 | F | 60–65 | Normal | Plano | Plano | NA | NA | c.539C>T, Het |
| HM2-II:7 | F | 55–60 | Patient | −10.00 | −10.00 | NA | NA | c.539C>T, Het |
| HM2-III:2 | F | 35–40 | Normal | Plano | Plano | NA | NA | WT |
| HM2-III:4 | F | 35–40 | Patient | −9.00 | −9.00 | 26.2 | 26.07 | c.539C>T, Het |
| HM2-III:5 | M | 35–40 | Patient | −7.50 | −6.50 | 23.71 | 23.76 | c.539C>T, Hemi |
| HM2-III:6 | F | 35–40 | Normal | Plano | Plano | NA | NA | WT |
| HM2-III:7 | M | 35–40 | Patient | −6.00 | −6.00 | NA | NA | c.539C>T, Hemi |
| HM2-III:12 | F | 10–15 | Patient | −4.00* | −4.00 | NA | NA | c.539C>T, Het |
| HM2-IV:1 | M | 5–10 | Normal | Plano | Plano | NA | NA | WT |
| HM2-IV:2 | M | 15–20 | Normal | Plano | Plano | NA | NA | WT |
| HM2-IV:3 | F | 10–15 | Normal | Plano | Plano | NA | NA | WT |
| HM2-IV:4 | M | 5–10 | Patient | −3.25* | −3.75 | 23.62 | 23.74 | c.539C>T, Hemi |
| HM2-IV:5 | F | 5–10 | Patient | −8.00 | −11.00 | 25.27 | 26.19 | c.539C>T, Het |
| HM2-IV:6 | F | 1–5 | Patient | −9.50 | −10.00 | 26.11 | 26.28 | c.539C>T, Het |
| HM2-IV:7 | F | 10–15 | Patient | −9.50 | −6.75 | 26.23 | 25.00 | c.539C>T, Het |
| HM2-IV:8 | F | 5–10 | Patient | −7.75 | −9.00 | 26.32 | 26.72 | c.539C>T, Het |
| HM2-IV:9 | M | 5–10 | Normal | Plano | Plano | NA | NA | WT |
| HM2-IV:10 | F | 1–5 | Normal | NA | NA | NA | NA | WT |
| M21227 | M | 10–15 | Patient | −13.00 | −13.50 | 28.3 | 28.17 | c.458G>A, Hemi |
*Moderate phenotype due to young age.
F, female; Hemi, hemizygote; Het, heterozygote; M, male; NA, not applicable; WT, wild-type.