Table 2 of Liu, Mol Vis 2014; 20:15-23.


Table 2. Ophthalmic investigations in three affected members

Age (year) / Sex II:1 II:2 II:3
8 / F 5 / F 2 / M
BCVAs (log MAR) (O.D. / O.S.) 0.8 / 0.8 0.4 / 0.3 NA / NA
Refractive Errors O.D. -1.00S+2.50C*70 -2.50S+4.00C*105 +2.50S+2.50C*90
O.S. -1.50S+2.00C*80 -3.00s+4.50C*95 +3.00S+2.75C*85
Pupils NOR NOR NOR
MRD1 (O.D. / O.S.) Severe / Severe Severe / Severe Severe / Severe
Levator Function (O.D. / O.S.) Poor (3 mm) / Poor (4 mm) Poor (2 mm) / Poor (2 mm) Poor (2 mm) / Poor (2 mm)
Strabismus O.D. 25 PD of Hypo; 35 PD of Eso 25 PD of Hypo; 45 PD of Eso 25 PD of Hypo; 35 PD of Eso
O.S. 20 PD of Hypo; 35 PD of Eso 25 PD of Hypo; 45 PD of Eso 25 PD of Hypo; 35 PD of Eso
Ocular Motility
O.D. Hyperduction Fixed Fixed Fixed
Hypoduction Fixed Fixed Fixed
Abduction NOR NOR NOR
Adduction Limited Limited Fixed
O.S. Hyperduction Fixed Fixed Fixed
Hypoduction Fixed Fixed Fixed
Abduction Fixed Fixed Fixed
Adduction Fixed Fixed Fixed
Compensatory Head Position Yes Yes Yes