Table 1. Pathogenic mutations were identified in 52 patients.
| ID | Gene | NM ID | Genotype | cDNA change | Protein change | References |
|---|---|---|---|---|---|---|
| ADRP | ||||||
| VGM+V.35 | EYS | NM_001142800 | Heterozygous | c.8984T>A | p.(Ile2995Asn) | PMID: 2053739433 |
| Heterozygous | c.7095T>G | p.(Tyr2365*) | PMID: 2053739433 | |||
| 3HV+M.66 | MERTK | NM_006343 | Homozygous | c.1787-2A>C | p.? | Novel |
| 3H5+K.42 | PDE6B | NM_000283 | Heterozygous | c.173C>T | p.(Ala58Val) | Novel |
| Heterozygous | c.2401C>T | p.(Gln801*) | Novel | |||
| 3WP+3.68 | RDH12 | NM_152443 | Homozygous | c.295C>A | p.(Leu99Ile) | PMID: 1532298221 |
| 5A2+H.62 | RHO | NM_000539 | Heterozygous | c.1040C>T | p.(Pro347Leu) | PMID: 221561734 |
| RC+V.27 | USH2A | NM_206933 | Heterozygous | c.9815C>T | p.(Pro3272Leu) | PMID: 1828161335 |
| Heterozygous | c.10342G>A | p.(Glu3448Lys) | PMID: 2426569336 | |||
| ARRP | ||||||
| VGJ+4.64 | CRB1 | NM_201253 | Homozygous | c.2401A>T | p.(Lys801*) | PMID: 1138948337 |
| 3UF+P.83 | CRB1 | NM_201253 | Homozygous | c.3961T>C | p.(Cys1321Arg) | Novel |
| 5WL+S.22 | CRB1 | NM_201253 | Heterozygous | c.3997G>A | p.(Glu1333Lys) | Novel |
| Heterozygous | c.3853T>C | p.(Cys1285Arg) | Novel | |||
| 59H+2.32 | PDE6B | NM_000283 | Heterozygous | c.2116A>T | p.(Lys706*) | PMID: 772454738 |
| Heterozygous | c.292C>T | p.(Arg98Cys) | Novel | |||
| Heterozygous | c.2093_2094insCCTGT | p.(Leu701Cysfs*14) | Novel | |||
| 3JY+V.17 | RDH12 | NM_152443 | Homozygous | c.295C>A | p.(Leu99Ile) | PMID: 1532298221 |
| 57R+R.78 | RDH12 | NM_152443 | Homozygous | c.377C>T | p.(Ala126Val) | PMID: 1914018039 |
| 347+7.8 | RPE65 | NM_000329 | Heterozygous | c.310G>A | p.(Gly104Ser) | Novel |
| Heterozygous | c.432C>G | p.(Tyr144*) | Novel | |||
| Heterozygous | c.2299delG | p.(Glu767Serfs*21) | PMID: 962405340 | |||
| U92+K.87 | USH2A | NM_206933 | Heterozygous | c.4714C>T | p.(Leu1572Phe) | PMID: 2202557941 |
| Heterozygous | c.11105G>A | p.(Trp3702*) | PMID: 235914059 | |||
| JX+6.76 | USH2A | NM_206933 | Homozygous | c.5012G>A | p.(Gly1671Asp) | Novel |
| Simplex/unknown RP | ||||||
| 5WY+Y.91 | CEP290 | NM_025114 | Heterozygous | c.5409A>C | p.(Glu1803Asp) | Novel |
| Heterozygous | c.5850delT | p.(Phe1950Leufs*15) | PMID: 1734560430 | |||
| 8G+Y.78 | CNGB1 | NM_001297 | Homozygous | c.3150delG | p.(Phe1051Leufs*12) | PMID: 2404377742 |
| 3XC+7.8 | CNGB1 | NM_001297 | Heterozygous | c.2805delG | p.(Glu935Aspfs*2) | Novel |
| Heterozygous | c.2544_2545insG | p.(Leu849Alafs*3) | Novel | |||
| U7U+9.12 | CRB1 | NM_201253 | Homozygous | c.2501G>A | p.(Gly834Asp) | Novel |
| UEW+W.58 | CRB1 | NM_201253 | Heterozygous | c.3712T>C | p.(Cys1238Arg) | Novel |
| Heterozygous | c.252_253insTG | p.(Asn87*) | Novel | |||
| 3XM+J.87 | CRX | NM_000554 | Heterozygous | c.682C>T | p.(Gln228*) | Novel |
| U6H+2.34 | EYS | NM_001142800 | Heterozygous | c.6078G>T | p.(Gln2026His) | Novel |
| Heterozygous | c.6416G>A | p.(Cys2139Tyr) | PMID: 2033377043 | |||
| TW+H.97 | EYS | NM_001142800 | Heterozygous | c.4350_4356del | p.(Ile1451Profs*3) | PMID: 2053739433 |
| Heterozygous | c.6714delT | p.(Ile2239Serfs*17) | PMID: 1897672544 | |||
| 3U6+9.42 | EYS | NM_001142800 | Heterozygous | c.904C>T | p.(Leu302Phe) | Novel |
| Heterozygous | c.8860T>C | p.(Phe2954Leu) | Novel | |||
| Homozygous | c.3250A>C | p.(Thr1084Pro) | Novel | |||
| VNM+T.47 | EYS | NM_001142800 | Homozygous | c.4402G>C | p.(Asp1468His) | Novel |
| Homozygous | c.3443+1G>T | p.? | Novel | |||
| 5ES+3.87 | GPR98 | NM_032119 | Heterozygous | c.2285G>A | p.(Arg762His) | Novel |
| Heterozygous | c.4349A>G | p.(Lys1450Arg) | Novel | |||
| UFC+7.74 | GRM6 | NM_000843 | Heterozygous | c.727G>T | p.(Val243Phe) | Novel |
| Heterozygous | c.2240C>T | p.(Ser747Leu) | Novel | |||
| 3XN+K.89 | IMPG2 | NM_016247 | Heterozygous | c.1589C>A | p.(Ser530*) | Novel |
| Heterozygous | c.3030_3031insTTTTAGGTGATGAA | p.(Ala1011Phefs*2) | Novel | |||
| 5VR+W.92 | MERTK | NM_006343 | Heterozygous | c.390G>A | p.(Trp130*) | PMID: 2415466210 |
| Heterozygous | c.2287C>A | p.(Pro763Thr) | Novel | |||
| 3V5+8.13 | NR2E3 | NM_014249 | Heterozygous | c.995-2A>C | p.? | Novel |
| Heterozygous | c.226C>T | p.(Arg76Trp) | PMID: 1065505645 | |||
| 3U3+6.63 | PDE6B | NM_000283 | Heterozygous | c.2193+1G>A | p.? | PMID: 772454738 |
| Heterozygous | c.299G>A | p.(Arg100His) | PMID: 2233437046 | |||
| UGQ+Q.72 | PDE6B | NM_000283 | Heterozygous | c.892C>T | p.(Gln298*) | PMID: 839417447 |
| Heterozygous | c.2116A>T | p.(Lys706*) | PMID: 772454738 | |||
| MK+W.33 | PDE6B | NM_000283 | Homozygous | c.1540delC | p.(Leu514Trpfs*61) | Novel |
| N6+A.15 | PROM1 | NM_006017 | Heterozygous | c.1117C>T | p.(Arg373Cys) | PMID: 2039311624 |
| 8J+Y.4 | PRPH2 | NM_000322 | Heterozygous | c.514C>T | p.(Arg172Trp) | PMID: 848557623 |
| 34U+F.88 | RDH12 | NM_152443 | Homozygous | c.805_809del | p.(Ala269Glyfs*2) | Novel |
| S7+G.76 | RHO | NM_000539 | Heterozygous | c.491C>T | p.(Ala164Val) | PMID: 798170125 |
| 5VY+V.14 | RHO | NM_000539 | Heterozygous | c.512C>T | p.(Pro171Leu) | PMID: 183377726 |
| U6Z+5.73 | RP2 | NM_006915 | Hemizygous | c.718delT | p.(Leu240Tyrfs*14) | Novel |
| 9C+Y.10 | RPGR | NM_001034853 | Hemizygous | c.2245G>T | p.(Glu749*) | Novel |
| U2C+J.77 | RPGR | NM_001034853 | Hemizygous | c.3039_3040del | p.(Glu1014Glyfs*64) | PMID: 2368134248 |
| UNM+T.54 | RPGR | NM_000328 | Hemizygous | c.1495_1496insA | p.(Ile499Asnfs*14) | Novel |
| 59R+5.99 | RPGRIP1 | NM_020366 | Heterozygous | c.1753C>T | p.(Pro585Ser) | PMID: 2115384149 |
| Heterozygous | c.2302C>T | p.(Arg768*) | PMID: 2007993150 | |||
| Heterozygous | c.973T>C | p.(Phe325Leu) | Novel | |||
| 5FP+L.15 | TULP1 | NM_003322 | Heterozygous | c.1213G>C | p.(Ala405Pro) | Novel |
| Heterozygous | c.1495C>T | p.(Pro499Ser) | Novel | |||
| 5FV+T.56 | USH2A | NM_206933 | Heterozygous | c.9921T>G | p.(Cys3307Trp) | PMID: 2156929851 |
| Heterozygous | c.13010C>T | p.(Thr4337Met) | PMID: 2050792452 | |||
| SS+6.62 | USH2A | NM_206933 | Heterozygous | c.2276G>T | p.(Cys759Phe) | PMID: 1077552953 |
| Heterozygous | c.10073G>A | p.(Cys3358Tyr) | PMID: 2050792452 | |||
| 32V+Y.3 | USH2A | NM_206933 | Heterozygous | c.842C>A | p.(Thr281Lys) | PMID: 2213527654 |
| Heterozygous | c.6795_6797del | p.(Glu2265_Tyr2266delinsAsp) | PMID: 1827389855 | |||
| P9+A.52 | USH2A | NM_206933 | Heterozygous | c.6172_6173insA | p.(Val2059Glyfs*44) | Novel |
| Heterozygous | c.2276G>T | p.(Cys759Phe) | PMID: 1077552953 | |||
| 5ZU+U.41 | USH2A | NM_206933 | Homozygous | c.5012G>A | p.(Gly1671Asp) | Novel |
| VHM+Y.45 | USH2A | NM_206933 | Heterozygous | c.5167G>C | p.(Gly1723Arg) | Novel |
| Heterozygous | c.4370C>A | p.(Ser1457*) | Novel | |||
| c.14792-2A>G | p.? | PMID: 2202557941 | ||||
| 8X+A.29 | USH2A | NM_206933 | Heterozygous | c.6779C>A | p.(Ser2260Tyr) | Novel |
| Heterozygous | c.12094G>A | p.(Gly4032Arg) | Novel | |||
| Heterozygous | c.2299delG | p.(Glu767Serfs*21) | PMID: 962405340 | |||
| 5CV+J.77 | USH2A | NM_206933 | Heterozygous | c.4714C>T | p.(Leu1572Phe) | PMID: 2202557941 |
| Heterozygous | c.9433C>T | p.(Leu3145Phe) | Novel | |||