Table 2. Listed below is the clinical information of the patients with mutations.
|
ID |
Mutation |
Gender |
Age (years) at |
Inheritance |
Visual acuity (right;left) |
Cataract types |
Cornea size (right;left; mm) |
Axial length (mm) (right;left) |
|
|---|---|---|---|---|---|---|---|---|---|
| exam | onset | ||||||||
| QT597I:1 |
c.34C>T; CRYAA |
male |
47 |
at birth |
AD |
0.04; 0.04 |
nuclear |
10; 10 |
27.82; 26.35 |
| QT597II:1 |
c.34C>T; CRYAA |
male |
24 |
at birth |
AD |
0.04; 0.08 |
nuclear |
10; 10 |
24.47; 24.16 |
| QT597III:1 |
c.34C>T; CRYAA |
male |
4 |
at birth |
AD |
N/A |
nuclear |
9.5; 9.5 |
N/A |
| QT204I:2 |
c.136G>A; GJA8 |
female |
34 |
at birth |
AD |
NLP; 0.03 |
total |
9; 9 |
N/A |
| QT204II:1 |
c.136G>A; GJA8 |
female |
5 |
at birth |
AD |
0.2; 0.25 |
total |
7; 7 |
N/A |
| QT895 | c.116C>G; GJA8 | male | 7 | at birth | Sporadic | 0.05; 0.1 | total | 6; 6 | N/A |