Table 1 Features of DRS pedigree patients and unaffected relatives.
Subjects | Gender | Age | Substitution | UCVA | CVA | Corneal optical reflection | Squint angle (Δ) | Globe retraction | DRS type | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OS | OD | OS | OD | 33 cm | 5 m | Left eye | Right eye | Affection | ||||||
II: 1 | M | 54 | +/+ | 0.8 | 0.5 | 1 | 1 | Normal position | No | |||||
II: 2 | F | 55 | p.(Phe213Val) | 0.8 | 0.6 | 1 | 1 | Normal position | No | |||||
II: 3 | M | 53 | p.(Phe213Val) | 0.8 | 0.8 | 1 | 1 | R/L10Δ | R/L40Δ | R/L40Δ | Yes | Normal | DRS I | Right |
II: 4 | F | 51 | +/+ | 0.5 | 0.25 | 1 | 1 | Normal position | No | |||||
II: 5 | F | 48 | p.(Phe213Val) | 0.8 | 0.4 | 1 | * | Normal position | No | |||||
II: 7 | F | 46 | +/+ | 0.8 | 1 | 1 | Normal position | No | ||||||
II: 9 | F | 43 | +/+ | 1 | 1 | Normal position | No | |||||||
II: 11 | M | 40 | p.(Phe213Val) | 1 | 0.8 | 1 | 0.8 | + 5Δ(L) | + 25Δ | + 25Δ | Yes | DRS I | Normal | Left |
II: 12 | F | 35 | +/+ | 1 | 1 | Normal position | No | |||||||
III: 2 | M | 33 | p.(Phe213Val) | 0.8 | 1 | 1 | R/L | R/L5Δ | R/L5Δ | Yes | DRS I | DRS I | Bilateral | |
III: 4 | F | 24 | +/+ | 1.2 | 1.2 | Normal position | No | |||||||
III: 7 | M | 29 | p.(Phe213Val) | 0.02 | 1 | * | + 15Δ(L) | + 50Δ | + 50Δ | Yes | DRS I | DRS I | Bilateral | |
III: 8 | F | 26 | +/+ | 1 | 0.8 | 1 | Normal position | No | ||||||
III: 10 | M | 22 | +/+ | 0.2 | 0.2 | 1 | 1 | Normal position | No | |||||
III: 11 | F | 26 | +/+ | 0.6 | 0.5 | 1 | 1 | Normal position | No | |||||
III: 12 | M | 21 | +/+ | 1 | 1 | Normal position | No | |||||||
III: 13 | M | 16 | +/+ | 0.5 | 0.3 | 1 | 1 | Normal position | No | |||||
III: 15 | M | 21 | +/+ | 1 | 1 | Normal position | No | |||||||
III: 16 | M | 16 | p.(Phe213Val) | 1 | 1 | Normal position | No | |||||||
III: 17 | F | 11 | p.(Phe213Val) | 1 | 0.4 | 0.6 | + 10Δ(R) | + 60ΔR/L10Δ | + 60ΔR/L10Δ | Yes | DRS I | DRS I | Bilateral | |
IV: 1 | M | 13 | p.(Phe213Val) | 0.8 | 0.4 | 1 | 0.5 | − 10Δ(R) | − 40ΔL/R | − 40Δ | Yes | DRS I | DRS III | Bilateral |
IV: 2 | M | 12 | p.(Phe213Val) | 0.5 | 0.8 | 0.8 | 1 | Normal position | No | |||||
IV: 4 | M | 10 | +/+ | 1 | 1 | Normal position | No | |||||||
IV: 5 | M | 8 | p.(Phe213Val) | 0.5 | 0.8 | 0.6 | 0.8 | Normal position | Yes | DRS II | DRS I | Bilateral | ||
IV: 6 | M | 8 | p.(Phe213Val) | 0.6 | 1 | 0.8 | + 10Δ(R) | + 30Δ | + 30Δ | Yes | DRS I | DRS I | Bilateral | |
