Figure 3. Pedigree plot of RP patients with DCBLD2 ultra-rare damaging QVs and genotype data from family members available.

In the 5 unrelated patients with RP and DCBLD2 ultrarare damaging QVs, 3 of them have genotype data of family members available. In two families, there is another first-degree family member who has RP and carries the DCBLD2 ultra-rare damaging QV. In the third family, there are two first-degree family members who carry the DCBLD2 ultra-rare damaging QV but do not have RP.