Patient | Age (years) | Sex | Onset (years) | Clinical features | SACS mutations | Average RNFL Thickness | |
---|---|---|---|---|---|---|---|
OD (μm) | OS (μm) | ||||||
A | 48 | F | 26 | Gait ataxia, dysarthria, spastic paraplegia and peripheral neuropathy | c.2076delG (p.Thr692ThrfsX713); c.3965_3966delAC (p.Gly1322ValfsX1343) | 174 | 175 |
B | 45 | M | 19 | Gait ataxia, dysarthria, spastic paraplegia and peripheral neuropathy | 162 | 140 | |
C | 43 | M | Late-teens | Gait ataxia, dysarthria, proximal myopathy and peripheral neuropathy | c.13048G>T (p.Glu4350X); 0.7Mb deletion (13q12.12) | 138 | 122 |
D | 46 | M | Mid-teens | Gait ataxia, dysarthria, proximal myopathy and peripheral neuropathy | 152 | 169 | |
E | 69 | M | Late-teens | Gait ataxia, spastic paraplegia and peripheral neuropathy | c.1580C>G (p.Ser527X); c.6781C>A (p.Leu2261Ile) | 111 | 86 |
Patients A and B, and patients C and D, are two pairs of siblings. The molecular genetic characterisation of these four patients with next-generation whole exome sequencing has been previously reported.4 ,5 All the patients presented with progressive gait ataxia and they were severely disabled, requiring the use of a wheelchair for ambulation. Four patients (A, B, C and D) had significant peripapillary RNFL thickening outside the normal range for healthy controls (mean average thickness=100.3 μm, SD=1.8 μm). No patient had a significant refractive error that could be a confounding variable in the analysis of peripapillary RNFL thickness.
OD, right eye; OS, left eye; RNFL, retinal nerve fibre layer.