Table 2. Clinical features of patients with GUCA1A mutations.
| Family patient | Age, sex | Symptoms | VA [refraction] OD VA [refraction] OS |
|---|---|---|---|
| MTP 434 III-2 |
53, F |
Photophobia, moderate night blindness onset at 25 |
0.05 [+2.25(−1,00)135°]
0.05 [+3.00(−1,00)65°] |
| MTP 434 IV-1 |
31, F |
Photophobia, moderate night blindness onset at 25 |
0.1 [+0.50(−0,50)160°]
0.1 [+0.25] |
| MTP 434 IV-3 |
22, M |
No night blindness, photophobia |
0.6 [-0.50]
0.6 [-0.50] |
| MTP 1560 II-1 |
63, M |
No night blindness, photophobia stopped driving at 45 |
0.05 [+4.75]
0.05 [+4.00(−0.50)135°] |
| MTP 1560 III-2 |
36, F |
No night blindness, photophobia |
0.16 [-2.50(−1,75)120°]
0.10 [-2.50(−1,25)165°] |
| MTP 1560 IV-3 | 9, M | No night blindness, photophobia | 0.9 [+2.50(−2,25)115°] 0.9 [+2.75(−3,00)70°] |
VA, visual acuity; M, male; F, female; OD, oculus dexter (right eye); OS, oculus sinister (left eye).