Table 4 of Khan, Mol Vis 2011; 17:218-224.


Table 4. Summary of clinical features.

ID Age Sex Total siblings Family history BCVA Primary AB/AD UP/DN CycloRef Comments
1 7 M 5 none 20/20 xt/hypo −4/-2 −6/-1 +0.50 attempt up=ad
          20/30 xt/hypo −4/-2 −6/-1 +0.50 attempt up=ad
2 7 M 3 maternal uncle with bilateral ptosis 20/40 xt/hypo −4/-2 −6/-1 +2.00–2.75x015 attempt up=ad
           20/400 xt/hypo −4/-2 −6/-1 −5.00–2.00x150 attempt up=ad
3 9 F 6 Younger sister with CFEOM1 20/70 xt/hypo −1/-1 −5/0 +2.50–2.00x180 attempt ad=dn; attempt up=ad
          20/60 xt/hypo −1/-1 −5/0 +3.50–3.25x180 attempt ad=dn; attempt up=ad
4 13 F 6 Older brother with CFEOM3 in left eye 20/30 et/hypo −2/0 −5/0 +2.00 attempt ab=dn; attempt up=ad; torsional nystagmus
          20/25 et/hypo −3/0 −5/0 +2.00 attempt up=ad; torsional nystagmus
5 17 F 11 Older sister with CFEOM3 in left eye 20/40 xt/hypo −2/-3 −5/-3 +2.00 attempt up=dn&ad
          20/60 xt/hypo −2/-1 −5/-3 +8.00 attempt up=ab