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. 2019 May 23;20(10):2542. doi: 10.3390/ijms20102542

Table 1.

Genes associated with IRDs.

Autosomal Dominant IRDs
Chorioretinal atrophy PRDM13 RGR TEAD1
Cone(-rod) dystrophy AIPL1 CRX GUCA1A GUCY2D PITPNM3 PROM1 PRPH2 RIMS1 SEMA4A UNC119
LCA CRX IMPDH1 OTX2
Macular dystrophy BEST1 C1QTNF5 CTNNA1 EFEMP1 ELOVL4 FSCN2 GUCA1B HMCN1 IMPG1 OTX2
PRDM13 PROM1 PRPH2 RP1L1 TIMP3
RP ADIPOR1 ARL3 BEST1 CA4 CRX FSCN2 GUCA1B HK1 IMPDH1 KLHL7
NR2E3 NRL PRPF3 PRPF4 PRPF6 PRPF8 PRPF31 PRPH2 RDH12 RHO
ROM1 RP1 RP9 RPE65 SAG SEMA4A SNRNP200 SPP2 TOPORS
Autosomal Recessive IRDs
Cone(-rod) dystrophy ABCA4 ADAM9 ATF6 C21orf2 C8orf37 CACNA2D4 CDHR1 CERKL CNGA3 CNGB3
CNNM4 GNAT2 IFT81 KCNV2 PDE6C PDE6H POC1B RAB28 RAX2 RDH5
RPGRIP1 TTLL5
LCA AIPL1 CABP4 CCT2 CEP290 CLUAP1 CRB1 CRX DTHD1 GDF6 GUCY2D
IFT140 IQCB1 KCNJ13 LCA5 LRAT NMNAT1 PRPH2 RD3 RDH12 RPE65
RPGRIP1 SPATA7 TULP1
Macular dystrophy ABCA4 CFH DRAM2 IMPG1 MFSD8
RP ABCA4 AGBL5 ARHGEF18 ARL6 ARL2BP BBS1 BBS2 BEST1 C2orf71 C8orf37
CERKL CLRN1 CNGA1 CNGB1 CRB1 CYP4V2 DHDDS DHX38 EMC1 EYS
FAM161A GPR125 HGSNAT IDH3B IFT140 IFT172 IMPG2 KIAA1549 KIZ LRAT
MAK MERTK MVK NEK2 NEUROD1 NR2E3 NRL PDE6A PDE6B PDE6G
POMGNT1 PRCD PROM1 RBP3 REEP6 RGR RHO RLBP1 RP1 RP1L1
RPE65 SAG SAMD11 SLC7A14 SPATA7 TRNT1 TTC8 TULP1 USH2A ZNF408
ZNF513

Genes mapped and identified for autosomal dominant and recessive forms of IRDs (data derived from RetNet, July 2018). The colored boxes indicate the genes (one color per gene) that are responsible for more than one type of disease. X-linked, stationary and syndromic IRDs, as well as developmental and mitochondrial disorders, have not been included.