TABLE 1.
Pathogenic variants identified in solved patients.
| Family | Patient | Clinical diagnosis | Gene | Nucleotide change | Protein change | Zygosity | References |
| $FRPN-511 | RPN-129 | STG | ABCA4 (NM_000350.3) | c.1804C > T | p.(Arg602Trp) | Heterozygous | Lewis et al., 1999 |
| c.982G > T | p.(Glu328*) | Heterozygous | Fishman, 2003 | ||||
| RPN-544 | STG | ABCA4 (NM_000350.3) | c.5882G > A | p.(Gly1961Glu) | Heterozygous | Allikmets et al., 1997 | |
| c.982G > T | p.(Glu328*) | Heterozygous | Fishman, 2003 | ||||
| $FRPN-2441 | RPN-646 | RP | RHO (NM_000539.3) | c.328T > C | p.(Cys110Arg) | Heterozygous | To et al., 2004 |
| FRPN-2461 | RPN-649 | MD/STG | ABCA4 (NM_000350.3) | c.5917del | p.(Val1973*) | Homozygous | Rivolta et al., 2000 |
| $FRPN-2521 | RPN-657 | STG | ABCA4 (NM_000350.3) | c.5714 + 1G > A | p.? | Heterozygous | This study |
| c.3386G > T | p.(Arg1129Leu) | Heterozygous | Allikmets et al., 1997 | ||||
| FRPN-2541 | RPN-659 | RP | EYS (NM_001142800.2) | c.7736_7742del | p.(Thr2579Lysfs*36) | Homozygous | This study |
| FRPN-2551 | RPN-660 | RP | USH2A (NM_206933.4) | c.4732C > T | p.(Arg1578Cys) | Heterozygous | Le Quesne Stabej et al., 2012 |
| c.1214del | p.(Asn405Ilefs*3) | Heterozygous | Schwartz et al., 2005 | ||||
| FRPN-2561 | RPN-661 | RP/LCA | CRB1 (NM_201253.3) | c.2416G > T | p.(Glu806*) | Homozygous | Corton et al., 2013 |
| FRPN-2581 | RPN-663 | STG | ABCA4 (NM_000350.3) | c.3386G > T | p.(Arg1129Leu) | Homozygous | Allikmets et al., 1997 |
| c.6718A > G | p.(Thr2240Ala) | Heterozygous | Zernant et al., 2011 | ||||
| FRPN-2611 | RPN-666 | Reverse BCAMD/STG/RP | ABCA4 (NM_000350.3) | c.5929G > A | p.(Gly1977Ser) | Heterozygous | Rozet et al., 1998 |
| c.5882G > A | p.(Gly1961Glu) | Heterozygous | Allikmets et al., 1997 | ||||
| FRPN-2631 | RPN-668 | CD | CRB1 (NM_201253.3) | c.1604T > C | p.(Leu535Pro) | Heterozygous | Corton et al., 2013 |
| c.2843G > A | p.(Cys948Tyr) | Heterozygous | den Hollander et al., 1999 | ||||
| FRPN-2651 | RPN-670 | NA | RP1 (NM_006269.2) | c.3157del | p.(Tyr1053Thrfs*4) | Heterozygous | Jacobson et al., 2000 |
| PRPH2 (NM_000322.5) | c.623G > A | p.(Gly208Asp) | Heterozygous | Kohl et al., 1997 | |||
| USH2A (NM_206933.4) | c.6957 + 1G > C | p.? | Heterozygous | This study | |||
| c.4955C > T | p.(Pro1652Leu) | Heterozygous | This study | ||||
| FRPN-2661 | RPN-671 | RP | EYS (NM_001142800.2) | c.5928-2A > G | p.? | Homozygous | González-del Pozo et al., 2011 |
| FRPN-2671 | RPN-672 | RP | CNGB1 (NM_001297.5) | c.2492 + 2T > G | p.? | Homozygous | This study |
| FRPN-2681 | RPN-673 | RP | USH2A (NM_206933.4) | c.2276G > T | p.(Cys759Phe) | Heterozygous | Rivolta et al., 2000 |
| c.13894C > T | p.(Pro4632Ser) | Heterozygous | This study | ||||
| FRPN-2691 | RPN-675 | RP | USH2A (NM_206933.4) | c.4732C > T | p.(Arg1578Cys) | Heterozygous | Le Quesne Stabej et al., 2012 |
| c.12575G > A | p.(Arg4192His) | Heterozygous | Ávila-Fernández et al., 2010 | ||||
| FRPN-2731 | RPN-679 | STG | ABCA4 (NM_000350.3) | c.4880del | p.(Leu1627Argfs*35) | Heterozygous | This study |
| c.5714 + 5G > A | p.? | Heterozygous | Cremers, 1998 | ||||
| c.2953G > A | p.(Gly985Arg) | Heterozygous | This study | ||||
| FRPN-2761 | RPN-682 | MD | BEST1 (NM_004183.4) | c.247G > T | p.(Val83Phe) | Heterozygous | Kinnick et al., 2011 |
| FRPN-2771 | RPN-683 | RP | RPGR (NM_001034853.2) | c.1366del | p.(Gln456Lysfs*20) | Hemizygous | This study |
| FRPN-2781 | RPN-684 | RP | EYS (NM_001142800.2) | c.9468T > A | p.(Tyr3156*) | Homozygous | Collin et al., 2008 |
| FRPN-2791 | RPN-685 | NA | PRPH2 (NM_000322.5) | c.658C > T | p.(Arg220Trp) | Heterozygous | Payne et al., 1998 |
| FRPN-2801 | RPN-686 | RP | USH2A (NM_206933.4) | c.12575G > A | p.(Arg4192His) | Homozygous | Ávila-Fernández et al., 2010 |
| FRPN-2811 | RPN-687 | CRD/STG | CRB1 (NM_201253.3) | c.481G > A | p.(Ala161Thr) | Homozygous | This study |
| FRPN-2841 | RPN-692 | RP Punctata albensces | ABCA4 (NM_000350.3) | c.3386G > T | p.(Arg1129Leu) | Heterozygous | Allikmets et al., 1997 |
| c.6148G > C | p.(Val2050Leu) | Heterozygous | Lewis et al., 1999 | ||||
| $FRPN-2861 | RPN-694 | NA | PRPH2 (NM_000322.5) | c.440dup | p.(Gly148Trpfs*29) | Heterozygous | This study |
| $FRPN-2891 | RPN-697 | STG | ABCA4 (NM_000350.3) | c.3386G > T | p.(Arg1129Leu) | Heterozygous | Allikmets et al., 1997 |
| c.634C > T | p.(Arg212Cys) | Heterozygous | Gerber et al., 1998 | ||||
| FRPN-2931 | RPN-701 | RP | PRPH2 (NM_000322.5) | c.647C > A | p.(Pro216His) | Heterozygous | This study |
| FRPN-2941 | RPN-702 | MD | ELOVL4 (NM_022726.4) | c.59A > G | p.(Asn20Ser) | Heterozygous | Hu et al., 2020 |
| FRPN-2961 | RPN-704 | CD | GUCA1A (NM_000409.5) | c.66C > A | p.(Tyr22*) | Heterozygous | This study |
| FRPN-2981 | RPN-706 | CRD | CRB1 (NM_201253.3) | c.613_619del | p.(Ile205Aspfs*13) | Homozygous | Lotery, 2001 |
| c.2291G > A | p.(Arg764His) | Heterozygous | Corton et al., 2013 | ||||
| FRPN-2991 | RPN-707 | RP | USH2A (NM_206933.4) | c.13811 + 2T > G | p.? | Heterozygous | Besnard et al., 2014 |
| c.2276G > T | p.(Cys759Phe) | Heterozygous | Rivolta et al., 2000 | ||||
| FRPN-3001 | RPN-708 | NA | OTX2 (NM_001270525.2) | c.638T > A | p.(Leu213*) | Heterozygous | This study |
| FRPN-3011 | RPN-709 | RP | PROM1 (NM_006017.2) | deletion exon 11 | p.? | Homozygous | This study |
| FRPN-3021 | RPN-710 | MD/BVMD | PRPH2 (NM_000322.5) | c.641G > A | p.(Cys214Tyr) | Heterozygous | Trujillo et al., 2001 |
| FRPN-3031 | RPN-711 | RP | USH2A (NM_206933.4) | c.14803C > T | p.(Arg4935*) | Heterozygous | Baux et al., 2007 |
| c.2332G > T | p.(Asp778Tyr) | Heterozygous | Lenassi et al., 2015 | ||||
| FRPN-3071 | RPN-715 | RP | RHO (NM_000539.3) | c.512C > A | p.(Pro171Gln) | Heterozygous | Antiñolo et al., 1994 |
| $FRPN-3082 | RPN-717 | RP | ABCA4 (NM_000350.3) | c.6148G > C | p.(Val2050Leu) | Heterozygous | Allikmets et al., 1997 |
| PRPF31 (NM_015629.3) | Gene deletion | p.? | Heterozygous | This study | |||
| FRPN-3092 | RPN-718 | RP | USH2A (NM_206933.4) | c.2276G > T | p.(Cys759Phe) | Homozygous | Rivolta et al., 2000 |
| FRPN-3122 | RPN-721 | RP | RHO (NM_000539.3) | c.512C > A | p.(Pro171Leu) | Heterozygous | Stone et al., 2017 |
| FRPN-3152 | RPN-725 | MD/STG | ABCA4 (NM_000350.3) | c.6310C > T | p.(Gln2104*) | Heterozygous | This study |
| c.3386G > T | p.(Arg1129Leu) | Heterozygous | Allikmets et al., 1997 | ||||
| FRPN-3162 | RPN-726 | RP | NRL (NM_001354768.3) | c.149C > T | p.(Ser50Leu) | Heterozygous | Koyanagi et al., 2019 |
| ABCA4 (NM_000350.3) | c.5908C > T | p.(Leu1970Phe) | Heterozygous | Rozet et al., 1998 | |||
| FRPN-3182 | RPN-728 | Joubert syndrome | CEP290 (NM_025114.4) | c.4966_4967del | p.(Glu1656Asnfs*3) | Heterozygous | Sheck et al., 2018 |
| c.2817G > T | p.(Lys939Asn) | Heterozygous | Srivastava et al., 2017 | ||||
| FRPN-3202 | RPN-730 | MD/STG | PRPH2 (NM_000322.5) | c.537G > A | p.(Trp179*) | Heterozygous | Diñeiro et al., 2020 |
| FRPN-3222 | RPN-732 | RP | PDE6B (NM_000283.4) | c.1920 + 1G > A | p.? | Heterozygous | This study |
| c.2470_2478del | p.(Lys824_Glu826del) | Heterozygous | This study | ||||
| FRPN-3232 | RPN-733 | MD | PRPH2 (NM_000322.5) | c.421T > C | p.(Tyr141His) | Heterozygous | Diñeiro et al., 2020 |
| ABCA4 (NM_000350.3) | c.5908C > T | p.(Leu1970Phe) | Heterozygous | Rozet et al., 1998 | |||
| FRPN-3242 | RPN-734 | MD/CD | ABCA4 (NM_000350.3) | c.3113C > T | p.(Ala1038Val) | Heterozygous | Rozet et al., 1998 |
| c.4539 + 2064C > T | [p.?; p.(=, Arg1514Leufs*36)] | Heterozygous | Zernant et al., 2014; Bauwens et al., 2019 | ||||
| c.1364T > A | p.(Leu455Gln) | Heterozygous | Salles et al., 2018 | ||||
| FRPN-3252 | RPN-735 | NA | EYS (NM_001142800.2) | c.8854del | p.(Thr2973Leufs*23) | Heterozygous | This study |
| c.1194del | p.(Gly399Aspfs*22) | Heterozygous | This study | ||||
| RDH5 (NM_002905.3) | c.712G > T | p.(Gly238Trp) | Heterozygous | Gonzalez-Fernandez et al., 1999 | |||
| FRPN-3282 | RPN-737 | MD/STG | PRPH2 (NM_000322.5) | c.641G > A | p.(Cys214Tyr) | Heterozygous | Trujillo et al., 2001 |
| FPRN-3272 | RPN-738 | MD/STG | BBS1 (NM_024649.4) | c.1169T > G | p.(Met390Arg) | Homozygous | Nishimura et al., 2010 |
| FRPN-3352 | RPN-745 | RP | RPGR (NM_001034853.2) | c.935-2A > G | p.? | Hemizygous | Koyanagi et al., 2019 |
| ABCA4 (NM_000350.3) | c.5908C > T | p.(Leu1970Phe) | Heterozygous | Rozet et al., 1998 | |||
| PDE6A (NM_000440.3) | c.2144T > C | p.(Met715Thr) | Heterozygous | This study | |||
| FRPN-3372 | RPN-747 | RP | RHO (NM_000539.3) | c.670G > A | p.(Gly224Arg) | Heterozygous | This study |
| FRPN-3392 | RPN-749 | STG | ABCA4 (NM_000350.3) | c.3386G > T | p.(Arg1129Leu) | Heterozygous | Allikmets et al., 1997 |
| c.3210_3211dup | p.(Ser1071Cysfs*14) | Heterozygous | Nasonkin et al., 1998 | ||||
| c.560G > A | p.(Arg187His) | Heterozygous | Cornelis et al., 2017 | ||||
| $FRPN-3402 | RPN-750 | LCA | CEP290 (NM_025114.4) | c.2991 + 1655A > G | p.? | Homozygous | Den Hollander et al., 2006 |
Novel pathogenic variants are highlighted in bold font.
FRPN, family number; FRPN-“1,” families studied with PV1; FRPN-“2,” families studied with PV2; $FRPN, families in which segregation analysis was performed; RPN, patient number; RP, retinitis pigmentosa; MD, macular dystrophy; p.?, unknown protein effect; STG, stargardt; LCA, leber congenital amaurosis; BCAMD, benign concentric annular macular dystrophy; CD, cone dystrophy; CRD, cone-rod dystrophy; BVMD, best vitelliform macular dystrophy; NA, not available. The “*” symbol corresponds to: stop-codon according to the format of mutations nomenclature from the Human Genome Variation Society (HGVS).