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.