Table 1

Neurological assessments of patients

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5
Age at diagnosis	3 weeks	5.5 months	6 weeks	2 weeks	3 months
Age at referral	4 months	6 months	9 months	7 weeks	5 months
Sex	Female	Male	Male	Male	Male
Neurological findings
OFC (centile)	75	90	3	< 3	> 90
Length (centile)	25	50	3	3	9
Features	Normal	Delay in head control	Mild motor delay	Spastic tetraplegia	Developmental delay
Brain imaging
CT	Normal	Ventricular dilatation	Normal	Marked cerebral atrophy	Mild cerebral atrophy
MRI	NA	NA	NA	Cerebral atrophy	NA
Ophthalmological findings
Clinical	Normal	Normal	Roving nystagmus	Roving nystagmus	No eye contact/“blind”
Fundoscopy	Normal	Normal	Optic atrophy	Optic atrophy, retinal depigmentation	Normal
VER	Normal	Normal	Delayed/attenuated	Absent	Delayed/ broadened
ERG	Normal	Normal	Normal	NA	Normal
ENT findings
AER	Normal	Normal	Absent	Normal	Normal

AER, auditory evoked response; CT, computed tomography; ENT, ear, nose and throat; ERG, electroretinogram; MRI, magnetic resonance imaging; NA, not available; OFC, occipitofrontal circumference; VER, visually evoked response.