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 - ——-/——