Table 1. Clinical data of STGD patients carrying the p.Ala1773Val mutation in ABCA4.
| Age/Sex* | Photophobia† | Nyctalopia† | VA‡ | RefractionΙΙ | Mutation | Evolution time (yr) | Stage# | |
|---|---|---|---|---|---|---|---|---|
| P1 |
32/F |
Y |
Y |
20/400 |
−1.75 |
Homozygous |
28 |
4 |
| P2 |
26/F |
Y |
Y |
20/200 |
−2.25 |
Homozygous |
11 |
4 |
| P3 |
27/F |
Y |
Y |
20/400 |
−2.25 |
Homozygous |
18 |
4 |
| P4 |
16/F |
Y |
N |
20/400–20/200 |
−2.00 |
Homozygous |
8 |
3 |
| P5 |
29/F |
Y |
N |
4/200–20/300 |
−4.00 |
Homozygous |
21 |
4 |
| P6 |
30/F |
Y |
Y |
20/300–20/200 |
−3.25 |
Homozygous |
23 |
4 |
| P7 |
32/F |
N |
Y |
20/300 |
−2.50 |
Homozygous |
19 |
4 |
| P8 |
9/M |
N |
Y |
20/200 |
−0.50 |
Homozygous |
2 |
2 |
| P9 |
19/M |
Y |
Y |
20/300 |
−2.00 |
Heterozygous |
12 |
3 |
| P10 | 13/F | Y | Y | 20/200 | −2.50 | Homozygous | 5 | 3 |
Age at diagnosis / Sex of the patient; † Photophobia/Nyctalopia; yes (Y) / NO (N); ‡ Best corrected visual acuity at diagnosis visit; similar in the two eyes; otherwise, specified individually as RE-LE; ΙΙSpherical equivalent at diagnosis visit; average of both eyes.; # Fishman classification (Mild: 1-2) (Severe: 3-4).; Fishman et al., 1999 [4].