Table 1 of Panagiotou, Mol Vis 2022; 28:57-69.


Table 1. Clinical information of patients with poor vision due to biallelic SIX6 mutations.

A                    
  Family ID Ethnicity Function Globe Cornea Iris Lens Fundus Mutation Reference
  MEP68 Pakistani CF - Microcornea Coloboma Cataract Normal c.547G>C This paper
  n=3   nystagmus   Opacity/Sclerocornea       p.(Asp183His)  
          Vascularization          
  F1332 Turkish LP Microphthalmia Sclerocornea totalis - Cataract [Normal ultrasound] c.-227_572+235del1034 This paper
  n=1       Cornea plana          
          Vascularization          
B                    
  n=2 Syrian No LP Microphthalmia Opacity - nd Retinal dystrophy c.532_536del; [4]
        Buphthalmos       Optic disc dysplasia [Retinal detachment p.(Asn178fs)  
                & Optic disc cupping ultrasound]    
  n=2 Syrian nd Anophthalmia Microphthalmia Sclerocornea - Cataract nd c.532_536del; [5]
                  p.(Asn178fs)  
  n=3 Turkish Low vision, nystagmus - nd Coloboma - Pigmented macular atrophy c.110T>C; [6]
                Optic disc coloboma p.(Leu37Pro)  
                Chorioretinal coloboma Peripapillary chorioretinal changes    
  n=1 nd Colour blindness, strabismus nd nd nd Cataract Severe coloboma c.86G>C; [7]
                  p.(Arg29Pro)