Table 2 of Preising, Mol Vis 2011; 17:939-948.


Table 2. Overview of the 172 index cases screened and the number of identified variants.

Patients identifiedc Index cases None Autosomal X-linked GPR143
      TYR OCA2    
      Single Two Single Two None Hemizygous
OCA 79 27 (35) 6 (8) 9 (11) 17 (21) 20 (25)    
OA female 36 19 (53) 4 (11) 2 (6) 6 (17) 5 (14)    
OA malea 57/10b 18 (32) 2 (4)   8 (14) 7 (12)   22 (39)/10b