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 |