Table 1.

Clinical Characteristics of Individuals Homozygous for the PDE6G c.187+1G>T Mutation

Patient Number, Sex	Age (yrs)	Eye	Refractive Error	Visual Acuitya	Visual Field	Full-Field Electroretinogram
						LA: Single Flashb		LA: Flicker (30 Hz)c
						Amp (μV)	Latency (mS)	Amp (μV)	Latency (mS)	DA: Dim (μV)d	DA: Moderate (μV)e	DA: Bright (μV)f
III-25, F	4	OD	ND	ND	ND	10	44	9	27	b 0	a 17, b 12	a 27, b 45
		OS	ND	ND	ND	ND	ND	ND	ND	ND	ND	ND
	12	OD	−2.25/−0.75 × 170°	6/12	<5°	ND	ND	ND	ND	ND	ND	ND
		OS	−1.50/−1.00 × 40°	6/12	10°	ND	ND	ND	ND	ND	ND	ND
III-26, M	16	OD	−3.00/−2.50 × 180°	6/12	5°	ND	ND	ND	ND	ND	ND	ND
		OS	−1.50/−2.75 × 180°	6/12	5°	ND	ND	ND	ND	ND	ND	ND
III-18, M	10	OD	ND	6/12+	ND	0	−	0	−	b 0	a 0, b 0	a 0, b 0
		OS	ND	6/12+	ND	ND	ND	ND	ND	ND	ND	ND
	15	OD	−1.00/−0.25 × 160°	6/18	5°	NA	NA	NA	NA	NA	NA	NA
		OS	−0.25/0.00	6/12	10° horizontal, 5° vertical	NA	NA	NA	NA	NA	NA	NA
III-19, M	7	OD	ND	6/12	ND	0	−	0	−	b 0	a 0, b 0	a 0, b 0
		OS	ND	6/12	ND	ND	ND	ND	ND	ND	ND	ND
	10	OD	+1.75/−1.25 × 180°	6/18−	<5°	NA	NA	NA	NA	NA	NA	NA
		OS	+1.75/−2.00 × 170°	6/18−	<5°	NA	NA	NA	NA	NA	NA	NA

The following abbreviations are used: F, female; M, male; OD, right eye; OS, left eye; ND, not determined; LA, light adaptation (cone ERG); DA, dark adaptation (rod ERG); NA, not applicable.

^aBest-corrected visual acuity.

^bNormal amplitude (amp) is 100–300 μV; normal latency is 26–30 mS.

^cNormal amplitude (amp) is 60–180 μV; normal latency is 25–30 mS.

^dNormal b wave is 130–330 μV.

^eNormal a wave is 150–320 μV; normal b wave is 290–500 μV.

^fNormal a wave is 320–520 μV; normal b wave is 410–610 μV.