Table 1. Clinical features of the patients examined.
Family | MA62 | MA94 | MA132 | MA123 | MA25 | MA69 | MA117 | MA97 |
---|---|---|---|---|---|---|---|---|
Individual | V−1 | V−3 | IV−3 | IV−4 | VI−4 | IV−12 | IV−2 | IV−1 |
Age (Years) | NA | NA | 18 | 23 | NA | 15 | 47 | 24 |
Age of onset | 1st decade | Infancy | 1st decade | 2nd decade | Infancy | Infancy | 2nd decade | 1st decade |
Legally blind | + | − | − | − | − | − | − | + |
Photophobia | − | ++ | − | +++ | ++ | + | + | − |
Nystagmus | − | + | − | +++ | ++ | + | ++ | − |
Night blindness | + | − | + | − | − | − | − | + |
Visual Acuity | LP | 20/60 | 20/40 | NA | 20/40 | 20/200 | 20/80 | NLP |
ERG (Rod) | NA | Normal | Reduced | NA | NA | Normal | Reduced and delayed | Absent |
ERG (Cone) | NA | Reduced | Normal | NA | NA | Reduced | Delayed | Low |
+ and − symbols indicate presence/absence, as well as degree of a given feature (+ mild, ++ moderate, +++ severe). NA, not available; LP, light perception; NLP, no light perception.