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 | - | ——-/—— |
Ethnicity: when both parents are of the same origin, it is listed; when of different origins, presented as paternal/maternal. All families except MOL0091 were of Jewish descent. Age at exams: When more than one examination was performed it is listed in the same row if visual acuities did not change and in consecutive rows if vision has deteriorated. Visual acuities: Best corrected visual acuities (BCVA) were 20/30 or better in all patients except MOL0580–1 and MOL0091–2 whose visual loss was gradual and documented longitudinally in repeated exams. Mutations: when mutations were identified in both alleles it is indicated as mutation/mutation, when a mutation was identified only in one allele: mutation/______, and when no mutations were found it is shown as dashes only: _____/______. *Cone dysfunction/Maculopathy: The following abbreviations are used in description: “M.A” for macular atrophy, “Tr.” for tritanopia, and “↓30Hz” for reduced cone flicker ERG.