Table 2. Clinical data of the probands with CORD and identified potential pathogenic mutations.

Family ID	Gene	Nucleotide changes	Sex	Age (year) at		First	Best visual acuity		Fundus changes		ERG responses from
				exam	onset	symptom	right	left	right	left	rod	cone
Family 1	ABCA4	c.[1957C>T];[4604dup]	M	7.0	6.0	PV, PP	0.20	0.15	MA, TPOD, ARA	MA, TPOD, ARA	Normal	Reduced
Family 2	CNGB3	c.[1774dup];[1774dup]	M	6.5	EC	PV,NYS	0.20	0.20	MA, TPOD	MA, TPOD	Mildly reduced	Extinguished
Family 3	CNGB3	c.[129+1G>A];[129+1G>A]	F	5.0	0.3	PV,NYS, PP	0.20	0.20	MA, TPOD, ARA	MA, TPOD, ARA	Normal	Extinguished
Family 4	CNGB3	c.[1957G>A];[2415A>C]	F	4.5	0.5	PP,NYS	0.10	0.20	ARA	ARA	Mildly reduced	Severely reduced
Family 5	PDE6C	c.[1935+1del];[2518+5G>C]	M	7.0	EC	NYS	0.05	0.05	High myopic	High myopic	Normal	Severely reduced
Family 6	PDE6C	c.[1004+1G>A];[1004+1G>A]	F	2.0	EC	PV,PP,NYS	PO	PO	NA	NA	Mildly reduced	Extinguished
Family 7	RPGRIP1	c.[799C>T];[2592T>G]	M	3.6	FMB	PV, PP, NYS	NA	NA	ARA,CRD	ARA,CRD	Extinguished	Extinguished
Family 8	CACNA1F	c.[2542G>A]; [0]	M	2.3	NA	PP, NYS	NA	NA	MA	MA	Severely reduced*	Extinguished
Family 9	RPGR	c.[785C>G]; [0]	M	28.0	EC	PV, PP	0.10	0.10	MA, TPOD, ARA	MA, TPOD, ARA	Moderately reduced	Extinguished
Family 10	RPGR	c.[2447_2461del]; [0]	M	9.0	EC	PV, PP	0.20	0.20	MA	MA	Normal	Extinguished

Note: F = female; M = male; EC = early childhood; FMB = first few months after birth; PV = poor vision; PP = photophobia; NYS = nystagmus; PO = pursuing object; NA = not available; MA = macular atrophy; TPOD = temporal pallor of optic disc; ARA = attenuated retinal arteries; CRD = carpet-like retinal degeneration.

^*This patient did not have the “electronegative” ERG in the standard combined response.