Table 1

Summary of the identified disease-causing genes in progressive cone and cone-rod dystrophy

Classification and inheritance pattern	Gene abbreviation	Gene name	Gene locus	Potential function	Other associated phenotypes (OMIM)
Progressive c one d ystrophy (COD)
Autosomal recessive	CACNA2D4	Voltage-dependent calcium channel alpha-2/delta-4	12p13.33	Neurotransmitter release	–
	CNGB3	Cyclic nucleotide-gated channel beta-3	8q21.3	Phototransduction	ACHM
	PDE6C	Cone-specific phosphodiesterase alpha subunit	10q23.33	Phototransduction	ACHM
	PDE6H	Cone-specific phosphodiesterase gamma subunit	12p12.3	Phototransduction	ACHM
X linked	OPN1LW	Long-wave-sensitive opsin 1	Xq28	Phototransduction	BCM, BED
X linked	OPN1MW	Medium-wave-sensitive opsin 1	Xq28	Phototransduction	BCM, BED
Progressive cone-rod dystrophy (CORD)
Autosomal dominant	AIPL1	Aryl-hydrocarbon-interacting protein-like 1	17p13.2	Tissue development	LCA, RP
	CRX	Cone-rod homeobox-containing gene	19q13.33	Tissue development	LCA, MD
	GUCY2D	Guanylate cyclase 2D	17p13.1	Photoreceptor recovery	CACD, LCA
	PITPNM3	Membrane-associated phosphatidylinositol transfer protein 3	17p13.2-p13.1	Tyrosine kinase signalling	–
	PROM1	Prominin 1	4p15.32	Outer segment morphogenesis	MD, RP
	PRPH2	Peripherin 2	6p21.1	Outer segment morphogenesis	CACD, LCA, MD, RP
	RAX2	Retina and anterior neural fold homeobox 2	19p13.3	Tissue development	–
	RIMS1	Protein regulating synaptic membrane exocytosis 1	6q13	Neurotransmitter release	RP
	UNC119	Human homologue of C.elegans UNC119 protein	17q11.2	Neurotransmitter release	–
Autosomal recessive	ADAM9	A disintegrin and metalloproteinase domain 9	8p11.22	Outer segment–RPE junction	–
	C21ORF2	Chromosome 21 open reading frame 2	21q22.3	Ciliogenesis	–
	C8ORF37	Chromosome eight open reading frame 37	8q22.1	Unknown	RP
	CDHR1	Cadherin-related family member 1	10q23.1	Outer segment morphogenesis	RP
	CEP78	Centrosomal protein 78-kD	9q21.2	Ciliogenesis	–
	CERKL	Ceramide kinase-like	2q31.3	Photoreceptor survival	RP
	KCNV2	Potassium voltage-gated channel subfamily V 2	9p24.2	Unknown	–
	POC1B	Proteome of the centriole 1B	12q21.33	Intraflagellar transport	–
	RAB28	Ras-associated protein 28	4p15.33	Intraflagellar transport	–
	RPGRIP1	Retinitis pigmentosa GTPase regulator protein 1	14q11.2	Intracellular trafficking	LCA
	SEMA4A	Semaphorin 4A	1q22	Tissue development	RP
	TTLL5	Tubulin tyrosine ligase-like family member 5	14q24.3	Steroid receptor signalling	–
X linked	CACNA1F	Voltage-dependent calcium channel alpha-1F	Xp11.23	Neurotransmitter release	AIED, CSNB
Both
Autosomal dominant	GUCA1A	Guanylate cyclase activator 1A	6p21.1	Photoreceptor recovery	–
Autosomal recessive	ABCA4	ATP-binding cassette subfamily A member 4	1p22.1	Retinoid cycle	MD, STGD
Autosomal recessive	CNGA3	Cyclic nucleotide-gated channel alpha-3	2q11.2	Phototransduction	ACHM
X linked	RPGR	Retinitis pigmentosa GTPase regulator	Xp11.4	Intraflagellar transport	MD, RP

ACHM, achromatopsia; AIED, Aland Island eye disease; BCM, blue cone monochromacy; BED, Bornholm eye disease; CACD, central areolar choroidal dystrophy; CSNB, congenital stationary night blindness; LCA, Leber congenital amaurosis; MD, macular dystrophy; OMIM, online Mendelian inheritance in man; RP, retinitis pigmentosa; RPE, retinal pigment epithelium; STGD, Stargardt disease.