| | Gene | Alias | Chr | Chr location | Exons | Pathology |
| | ABCA4 | RP19, STGD1, CORD3, and ARMD2 | 1 | 94458391-94586688 (rs) | 50 | ADRP, ARRP, ARCRD, and ARMD | | AIPL1 | LCA4 | 17 | 6327057-6338519 (rs) | 6 | ARLCA, ADCRD | | BEST1 | RP50, BMD, and VMD2 | 11 | 61717293-61732987 (fs) | 11 | ADRP, ARRP, and ADMD | | C2ORF71 | RP54 | 2 | 29284556-29297127 (rs) | 2 | ARRP | | CA4 | RP17 | 17 | 58227302-58236902 (fs) | 8 | ADRP | | CABP4 | CSNB2B | 11 | 67219877-67226699 (fs) | 7 | ARLCA, ARCSNB | | CEP290 | LCA10, BBS14, and NPHP6 | 12 | 88442794-88535993 (rs) | 53 | ARLCA, ARBBS | | CERKL | RP26 | 2 | 182401403-182545392 (rs) | 14 | ARRP, ARCRD | | CLRN1 | RP61, USH3A | 3 | 150643950-150690786 (rs) | 3 | ARRP | | CNGA1 | RP49 | 4 | 47937994-48018689 (rs) | 13 | ARRP | | CNGA2 | | X | 150906923-150913776 (fs) | 6 | | | CNGB1 | RP45 | 16 | 57917847-58005020 (rs) | 33 | ARRP | | CRB1 | LCA8, RP12 | 1 | 197170592-197447585 (fs) | 12 | ARRP, ARLCA | | CRX | LCA7, CORD2 | 19 | 48325097-48364769 (fs) | 4 | ADRP, ADLCA, ARLCA, and ADCRD | | DHDDS | RP59 | 1 | 26758773-26797785 (fs) | 9 | ARRP | | EYS | RP25 | 6 | 64429876-66417118 (rs) | 43 | ARRP | | FAM161A | RP28 | 2 | 62051989-62081278 (rs) | 6 | ARRP | | FSCN2 | RP30 | 17 | 79495422-79504156 (fs) | 5 | ADRP, ADMD | | GUCA1B | RP48, GCAP2 | 6 | 42152139-42162694 (rs) | 4 | ADRP, ADMD | | GUCY2D | LCA1, CORD6 | 17 | 7905988-7923658 (fs) | 20 | ARLCA, ADCRD | | IMPDH1 | LCA11, RP10 | 7 | 128032331-128050306 (rs) | 17 | ADRP, ADLCA | | IMPG2 | RP56, sparcan | 3 | 100945570-101039404 (rs) | 20 | ARRP | | IQCB1 | NPHP5 | 3 | 121488610-121553926 (rs) | 15 | ARLCA | | KLHL7 | RP42 | 7 | 23145353-23215040 (fs) | 12 | ADRP | | LCA5 | Lebercilin | 6 | 80194708-80247175 (rs) | 8 | ARLCA | | LPCAT1 | AYTL2 | 5 | 1456595-1524092 (rs) | 14 | ARLCA | | LRAT | LCA14 | 4 | 155548097-155674270 (fs) | 4 | ARRP, ARLCA | | MERTK | RP38 | 2 | 112656056-112787138 (fs) | 19 | ARRP | | NR2E3 | RP37, PNR | 15 | 72084977-72110559 (fs) | 8 | ADRP, ARRP, and ARESCS | | NRL | RP27 | 14 | 24549316-24584223 (rs) | 3 | ADRP, ARRP, and ARESCS | | OFD1 | RP23 | X | 13752832-13787480 (fs) | 23 | XRP | | OTX2 | | 14 | 57267426-57277197 (rs) | 5 | ADLCA | | PDE6A | RP43 | 5 | 149237519-149324356 (rs) | 22 | ARRP | | PDE6B | RP40, CSNBAD2 | 4 | 619373-664571 (fs) | 23 | ARRP, ADCSNB | | PDE6G | RP57 | 17 | 79617489-79623607 (rs) | 4 | ARRP | | PRCD | RP36 | 17 | 74523871-74541458 (fs) | 5 | ARRP | | PROM1 | RP41, STGD4, CORD12, and MCDR2 | 4 | 15964699-16086001 (rs) | 28 | ARRP, ADCRD, and ADMD | | PRPF3 | RP18 | 1 | 150293925-150325671 (fs) | 16 | ADRP | | PRPF6 | RP60 | 20 | 62612488-62664453 (fs) | 21 | ADRP | | PRPF8 | RP13 | 17 | 1553923-1588154 (rs) | 43 | ADRP | | PRPF31 | RP11 | 19 | 54618837-54635140 (fs) | 14 | ADRP | | PRPH2 | RDS, RP7 | 6 | 42664340-42690312 (rs) | 3 | ADRP, ADMD, ADCRD, and digenic | | RBP3 | IRBP | 10 | 48381487-48390991 (rs) | 4 | ARRP | | RDH12 | LCA13, RP53 | 14 | 68168603-68201169 (fs) | 8 | ADRP, ARLCA | | RGR | RP44 | 10 | 86004809-86019716 (fs) | 7 | ADRP, ARRP, and ADCA | | RHO | RP4, CSNBAD1 | 3 | 129247483-129254012 (fs) | 5 | ADRP, ARRP, and ADCSNB | | RLBP1 | CRALBP | 15 | 89753098-89764922 (rs) | 9 | ARRP | | ROM1 | | 11 | 62379194-62382592 (fs) | 3 | ADRP, digenic | | RP1 | | 8 | 55471729-55682531 (fs) | 4 | ADRP, ARRP | | RP2 | | X | 46696375-46741793 (fs) | 5 | XRP | | RP9 | PAP1 | 7 | 33134409-33149013 (rs) | 7 | ADRP | | RPE65 | LCA2, RP20 | 1 | 68894505-68915642 (rs) | 14 | ARRP, ARLCA | | RPGR | RP3, CORDX1 | X | 38128424-38186817 (rs) | 19 | XRP, XCRD, XMD | | RPGRIP1 | LCA6, CORD13 | 14 | 21756098-21819460 (fs) | 24 | ARLCA, ARCRD | | SAG | RP47, Arrestin | 2 | 234216309-234255701 (fs) | 16 | ARRP, ARCSNB | | SEMA4A | RP35, CORD10 | 1 | 156117157-156147543 (fs) | 16 | ADRP, ARRP, and ADCRD | | SNRNP200 | RP33 | 2 | 96940074-96971297 (rs) | 45 | ADRP | | SPATA7 | LCA3 | 14 | 88851268-88936694 (fs) | 12 | ARLCA | | TOPORS | RP31 | 9 | 32540542-32552551 (rs) | 3 | ADRP | | TUB | | 11 | 8040791-8127659 (fs) | 13 | | | TULP1 | LCA15, RP14 | 6 | 35465651-35480715 (rs) | 15 | ARRP, ARLCA | | USH2A | RP39 | 1 | 215796236-216596738 (rs) | 73 | ARRP | | ZNF513 | RP58 | 2 | 27600098-27603657 (rs) | 4 | ARRP |
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Genes are listed alphabetically according to their official gene symbol, and, in addition, gene aliases commonly used in ophthalmic research provided. Chromosomal (chr) location is based on the Homo sapiens high-coverage assembly GRCh37, yielding in the UCSC hg19 database (fs: forward strand; rs: reverse strand). For each gene the number of exons is listed. Targeted sequence capture was directed against genes causing autosomal dominant (AD), autosomal recessive (AR) X-linked (X), retinitis pigmentosa (RP), and Leber congenital amaurosis (LCA). Other retinopathies caused by a given gene are also indicated: cone or cone-rod dystrophy (CRD), macular degeneration (MD), congenital stationary night blindness (CSNB), Bardet-Biedl syndrome (BBS), enhanced S-cone syndrome (ARESCS), and chorioretinal atrophy (CA). Heterozygote ROM1 and PRPH2 mutations cause digenic disease. ORF15 of RPGR was not included in the assay.
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