Table 1.
Summary of the clinical manifestations of five patients
| Patient | P1 | P2 | P3 | P4 | P5 |
|---|---|---|---|---|---|
| Gender | M | M | F | M | F |
| Ethnicity | Han Chinese | Han Chinese | Han Chinese | Han Chinese | Caucasian/Chinese |
| Age (years) | 12 | 28 | 28 | 11 | 25 |
| Age at initial visit (years) | 7 | 24 | 25 | 11 | 4 |
| Phenotype | OMS | BNS | BNS | BNS | BNS |
| BCVA(OD,OS) | 20/2000,20/630 | 20/200,20/200 | 20/500,20/500 | 20/200,20/250 | 20/600,20/1000 |
| Night blindness | + | + | + | + | + |
| Chorioretinopathy | + | + | + | + | + |
| ERG | No recordable responses | No recordable responses | NA | No recordable responses | Remarkably reduced |
| Ataxia | − | + | − | − | − |
| MRI of brain | small pituitary gland | Atrophy cerebellum | − | − | NA |
| Hypogonadotropic hypogonadism | + | + | + | + | + |
| Testosterone | Low | Low | Normal | Slightly low | NA |
| GH deficiency | + | NA | NA | − | NA |
| Short stature | + | − | − | − | + |
| Delayed bone age | + | NA | NA | NA | NA |
| Trichomegaly | + | − | − | − | − |
| Sparse hair | + | − | − | − | − |
M, male; F, female; OMS, Oliver-McFarlane syndrome; BNS, Boucher–Neuhäuser syndrome; BCVA, best corrected visual acuity; MRI, magnetic resonance imaging; ERG, electroretinography; GH, growth hormone; NA, not available;