Figure 5 of Abdulridha-Aboud, Mol Vis 2016; 22:362-373.


Figure 5. Phenotype. Results of full-field electroretinography. Family A with the PRPF31 (p.IVS6+1G>T) mutation showed a severely reduced rod and cone response in the affected individuals (II-1, III-4, and IV-5), while the two unaffected children (IV-1 and IV-2) had normal full-field electroretinography (ffERG). Family B with the RHO135 (p.R135W) mutation showed in the unaffected grandparent (I-2) and in the mother (II-1) normal rod and cone responses, while all three affected children (III-1, III-2, and III-3) and the grandchild (IV-1) had a severely reduced rod and cone response.