Table 1

 Patient clinical data

CharacteristicsPatients (n = 40)%
*Including pigmentary retinopathy and Leber congenital amaurosis.
Sex (M/F)18/2245/55
Neurological features40100
    Hypotonia/ataxia3587
    Mental retardation3075
    Oculomotor apraxia3485
    Breathing abnormalities1742
Ocular features2152
    Retinal dystrophy*1845
    Ocular colobomas37
Renal features1537
    NPH/urinary concentration defects1025
    Cystic kidney disease37
    Other renal disease25
Combined ocular and renal disease1127
Hepatic disease37
Polydactyly820