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