Skip to main content

Table 2 Genetic results of RP patients included in the study

From: Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study

Family ID Sex Age ranges at baseline Gene Transmission Allele 1
Nucleotide; Amino acid
Allele 2
Nucleotide; Amino acid
1 1 M 50–55 AR
2 M 45–50 AR
2 3 F 40–45 USH2A AR
4 M 35–40 USH2A AR
3 5 M 20–25
6 M 25–30
4 7 F 65–70 AR
8 F 70–74 AR
5 9 F 20–25 USH2A AR c.1841-2A > G
10 F 30–35 USH2A AR c.1841-2A > G
6 11 F 50–55 USH2A AR c.1412_1415dup; p.(Asn472Lysfs*2) c.4124C > T; p.(Ser1375Leu)
12 M 50–55 USH2A AR c.1412_1415dup; p.(Asn472Lysfs*2) c.4124C > T; p.(Ser1375Leu)
7 13 F 45–50 NR2E3 AD c.166G > A; p.(Gly56Arg)
14 F 50–55 NR2E3 AD c.166G > A; p.(Gly56Arg)
15 F 45–50 NR2E3 AD c.166G > A; p.(Gly56Arg)
16 F 45–50 NR2E3 AD c.166G > A; p.(Gly56Arg)
8 17 M 55–60 AR
18 F 50–55 AR
9 19 M 25–30 USH2A AR c.299del; p.(Glu767Serfs*21)
20 F 35–40 USH2A AR c.299del; p.(Glu767Serfs*21)
10 21 M 20–25 PRPF8 AD c.7007G > C; p.(*2336Serext*41)
22 F 20–25 PRPF8 AD c.7007G > C; p.(*2336Serext*41)
23 F 25–30 PRPF8 AD c.7007G > C; p.(*2336Serext*41)
11 24 F 35–40 USH2A AR c.5776 + 1G > A c.4758 + 3787_c.6325 + 9314del
25 F 45–50 USH2A AR c.5776 + 1G > A c.4758 + 3787_c.6325 + 9314del
12 26 F 50–55 CNGB1 AR c.827_834del; p.(Ile276Thrfs*4) c.2957A > T; p.(Asn986Ile)
27 F 45–50 CNGB1 AR c.827_834del; p.(Ile276Thrfs*4) c.2957A > T; p.(Asn986Ile)
  1. ID patient identification number, AD autosomal dominant, AR autosomal recessive