Table 3 of
Han, Mol Vis 2017; 23:649-659. Table 3 of
Han, Mol Vis 2017; 23:649-659.
Table 3. Demographics and clinical features of patients suspected with Leber congenital amaurosis.
| Patients | Sex | Age at testing | Gene | Main symptom | Fundus finding | ERG | Oculodigital sign | Cycloplegic refraction |
|---|---|---|---|---|---|---|---|---|
| P1 | F | 7.5 months | CRX | Poor eye contact | Grossly normal, OU | Extinguished | + | OD: +sph3.00 |
| OS: +sph2.50 | ||||||||
| P2 | M | 6 months | GUCY2D | Poor eye contact | Grossly normal, OU | Extinguished | - | OD: +sph5.50 |
| OS: +sph5.50 | ||||||||
| P3 | F | 6 months | GUCY2D | Nystagmus | Grossly normal, OU | Extinguished | - | OD: +sph8.50 |
| Poor eye contact | OS: +sph8.50 -cyl100 axis180 | |||||||
| P4 | M | 13 months | NMNAT1 | Eye poking, rubbing | Bony speculated pigmentation | Extinguished | + | R: +sph5.50 |
| Macular coloboma, OU | L: +sph5.50 | |||||||
| P5 | F | 7 months | NMNAT1 | Poor eye contact | Bony speculated pigmentation | Extinguished | + | R: +sph4.00 |
| Macular coloboma, OU | L: +sph5.00 | |||||||
| P6 | M | 12 months | NMNAT1 | Nystagmus | Macular coloboma | Extinguished | + | OD: +sph5.50 -cyl3.00 axis180 |
| Marbled fundus, OU | OS: +sph5.00 -cyl3.00 axis180 | |||||||
| P7 | F | 7 months | CEP290 | Poor eye contact | Grossly normal, OU | Extinguished | + | OD: +sph6.00 |
| OS: +sph6.00 | ||||||||
| P8 | F | 8 months | RPGRIP1 | Poor eye contact | Pale disc, OU | Extinguished | - | OD: +sph6.00 -cyl0.75 axis170 |
| OS: +sph6.00 -cyl0.50 axis10 | ||||||||
| P9 | M | 29 years | RPGRIP1 | Nystagmus | Pale disc, OU | Extinguished | - | OD: -sph6.50 |
| OS: -sph6.50 |