Table 1 of
Pras, Mol Vis 2012; 18:1712-1718.
Table 1. Demographic, clinical and genetic findings of patients with fundus-albipunctatus.
Family | Patient | Ethnicity | Age at exam | BCVA OD:OS | Cone Dysfunction/ Maculopathy* | Mutations |
---|---|---|---|---|---|---|
14 | 1 | Buchara | 35, 38 | 20/20: 20/20 | - | R54X /R54X |
2 | 40 | 20/20: 20/20 | - | R54X /R54X | ||
15 | 1 | Iraq/Morocco | 50 | 20/25: 20/25 | - | R54X /R54X |
19 | 1 | Iran | 32 | 20/25: 20/20 | - | R54X /R54X |
17 | 1 | Iraq | 50 | 20/25: 20/25 | - | R54X /R54X |
2 | 39 | 20/20: 20/20 | - | R54X /R54X | ||
3 | 55 | 20/20: 20/30 | - | R54X /R54X | ||
18 | 1 | Iraq | 32 | 20/20: 20/20 | - | R54X /R54X |
MOL0427 | 1 | Iran | 19 | 20/20:20/20 | - | R54X /R54X |
MOL0580 | 1 | Iraq | 55 | 20/50: 20/70 | M.A.; Tr.; ↓30Hz | R54X /R54X |
16 | 1 | Ashkenazi | 29, 31 | 20/25: 20/25 | - | c.242delTGCC/ c.242delTGCC |
20 | 1 | Iraq/Ashkenazi | 22 | 20/20: 20/20 | - | c.242delTGCC/ c.242delTGCC |
MOL0338 | 1 | Ashkenazi | 23 | 20/20: 20/20 | - | c.242delTGCC/ c.242delTGCC |
MOL0091 | 2 | Arab-Muslim | 18 | 20/20: 20/20 | M.A.; ↓30Hz | D128N/D128N |
29 | 20/50: 20/40 | |||||
35 | 20/200:20/400 | |||||
3 | 10 | 20/30: 20/30 | - | D128N/D128N | ||
4 | 23 | 20/30: 20/30 | - | D128N/D128N | ||
6 | 24 | 20/20: 20/20 | - | NO DNA | ||
21 | 1 | Turkey/Iraq | 20 | 20/20: 20/20 | - | R191Q/_____ |
22 | 1 | Morocco/India | 24 | 20/20: 20/25 | - | R278Q/_____ |
23 | 1 | Yemen | 55, 69 | 20/30: 20/25 | - | ——-/—— |