Table 1

Patient details

Patient Sex Presentation Onset Vision last visit Fundus Photophobia Paradox pupil Colour vision Family history
1FVN photophobia6 weeksR 2/36, L 1/24 (Silver Sonksen)normalyesnonot testednone
2FVN, lid twitchbirthR 4/60, L 3/60 (Sheridan Gardner)normalyesnot notedidentifies rednone
3FVN6 weeksR 2/18, L 2/18 (Kay Pictures)normalyesyesnot testednone
4MVNbirthPoor acuity (Pattern VEPs)normalyesnot notednot testedbrother BCM (Berson test +ve)
5FnystagmusbirthR 6/60, L 6/60 (Snellen)att vesselsyesnot notedishihara 0/17none
6FVN poor F&F2 weeksmoderate/poor (VEPs 200′)normalyesnoishihara 0/17brother cone dysf
7MVNbirthR 3/18, L 3/18 (Snellen)normalnonoishihara 0/17 Berson test +venone
8FVN photophobia<3 yearsR 1/18, L 1/18 (Kay Pictures)macular reflex abnyesnonot testednone
9FIntermittent VN6 monthsR 5/60, L 5/60 (Snellen)No foveal reflexnonoishihara 0/17father squint
10Mnystagmus5 monthsR 3/60, L 3/60 (Sheridan Gardner)att vesselsnonot notednot testednone
11Mnystagmusbirthmoderate/poor (VEPs 200′)blondeyesnot notednot testednone
12Mnystagmus2 monthsR 6/36, L 6/36 (Snellen)normalnoyesnot testedmale cousin and grandfather CSNB
13FVN, fixed eccentric pupil7 weeksR 6/12, L 6/12 (Snellen)normalnonoishihara 17/17none
14Fnystagmusbirthmoderate (VEPs 100′)normalnononot testednone
  • “Vision last visit” If formal visual acuity was not possible to obtain, pattern VEP findings are indicated by stating the smallest pattern size that was resolvable. (Paradox=paradoxical; VN= vertical nystagmus; F&F=fixing and following; att=attenuated; abn=abnormal; dysf=dysfunction, +ve= positive; CSNB=congenital stationary night blindness.)