|
| Patient 1 | Patient 2 | Patient 3 |
| Age | 8 years | 8 years | 12 years |
| Sex | F | F | M |
| Visual Acuity | PL+ | 1/10 | 1/10 |
| Fundus | Retinis pigmentosa | Retinis pigmentosa | Retinis pigmentosa |
| Orbital-cerebral CT/MRI | Normal | Normal | Cerebellar atrophy molar sign |
| Abdominal echography | Normal | Cystic dilatation of common bile duct | Normal |
| Other Signs | No | Progressive myoclonic epilepsy | Progressive myoclonic epilepsy psychomotor retardation |