Table 2. Clinical features of patients with the SNRNP200 mutation.
II:1 | III:3 | III:9 | IV:6 | IV:7 | ||||||
OD | OS | OD | OS | OD | OS | OD | OS | OD | OS | |
Age (years)/Sex | 83/F | 49/M | 49/F | 27/F | 19/M | |||||
Age of onset of night blindness (years) | 10 | 12 | 10 | 14 | 12 | |||||
BCVA (logMAR) | NL | NL | 0.1 | 0.2 | 0.2 | NL | 1.0 | 1.0 | 1.0 | 1.0 |
IOP(mmHg) | 58 | 60 | 13 | 15 | 34 | 35 | 14 | 15 | 14 | 15 |
PSC | Yes | Yes | Yes | Yes | Yes | Yes | No | No | No | No |
Optic disc | NA | NA | Pale | Pale | Pale | Pale | Cerinus | Cerinus | Cerinus | Cerinus |
Artery attenuation | NA | NA | Yes | Yes | Yes | Yes | Yes | Yes | No | No |
Pigment deposits | NA | NA | Int | Int | Int | Int | Diff | Diff | Diff | Diff |
Visual field | NA | NA | 30° | 30° | 10° | NA | 60° | 60° | 30° | 30° |
ERG | NA | NA | NR | NR | NR | NR | Both remarkably reduced response | Both remarkably reduced response |
F: female; M: male; BCVA: best corrected visual acuity; logMAR: logarithm of the Minimum Angle of Resolution; NL: no light perception; IOP: intraocular pressure; PSC: posterior subcapsular cataract; ERG: electroretinography; NR: not recordable; Int: intensive Diff: diffuse; NA: not available.