Molecular Vision: Aweidah, Mol Vis 2021; 27:588-600. Table 3

Table 3. Patients with other CNGB3 mutations causing achromatopsia.

Patient ID (age at ERG testing, years)	Origin	Consanguinity	Genotype	Visual Acuity^‡ (Age at visual acuity test, years)	Spherical Equivalent (SE)^§	Full Field ERG amplitudes (μV)
Patient ID (age at ERG testing, years)	Origin	Consanguinity	Genotype	Visual Acuity^‡ (Age at visual acuity test, years)	Spherical Equivalent (SE)^§	Age at ffERG test (years)	LA 30Hz Cone Flicker (IT)	DA Mixed Rod-Cone (Average)	Rod response (b wave)
MOL0686–1 (10)	Moroccan Jewish	Yes (1:2)	c.[1148delC];[1148delC]	0.01 (41)	NA	41	ND	a: 142 b: 243	184
MOL0831–4 (0.5)	Tunisian Jewish	Yes (2:2)	c.[1148delC];[1148delC]	0.10 (31)	+4.25	31	ND	a: 126 b: 258	138
MOL0831–5 (12)	Tunisian Jewish	Yes (2:2)	c.[1148delC];[1148delC]	0.10 (20)	+0.25	20	ND	a: 182 b: 298	247.50
MOL1136–1 (01)	Moroccan Jewish	None	c.[1148delC];[1148delC]	0.08 (2)	+4.00	2	NA	Lower normal*	NA*
MOL1391–1 (04)	Moroccan Jewish	None	c.[1148delC];[1148delC]	NA	+2.56	4	ND	Moderate reduction*	Normal*
MOL1391–2 (03)	Moroccan Jewish	None	c.[1148delC];[1148delC]	NA	+1.25	3	ND	Reduced*	Normal*
RD175–1 (04)	Mixed Jewish (Algeria, Morocco)	None	c.[1148delC];[1148delC]	0.16 (11)	−1.19	NA^a	NA^a	NA^a	NA^a
RD175–2 (08)	Mixed Jewish (Algeria, Morocco)	None	c.[1148delC];[1148delC]	0.20 (15)	−1.38	NA^a	NA^a	NA^a	NA^a
MOL0012–1 (12)	Ashkenazi Jews	None	c.[644–1G>C];[644–1G>C]	0.01 (40)	+1.50	40	ND	a: 134.5 b: 285.5	304.50
MOL0012–3 (01)	Ashkenazi Jews	None	c.[644–1G>C];[644–1G>C]	0.10 (20)	NA	20	ND	a: 104 b: 326	340.50
MOL0360–1 (0.5)	Bedouin	Yes (2:2)	c.[782A>G];[782A>G]	NA	+1.58	7	Severe reduction	Reduced*	NA*
MOL0360–2 (05)	Bedouin	Yes (2:2)	c.[782A>G];[782A>G]	0.01 (5)	−1.25	5	ND	Normal Rods*	NA*
MOL1173–1 (03)	Georgian Jews	None	c.[1006G>T];[1006G>T]	NA	+1.88	3	Severe reduction	Moderate to severe reduction*	NA*
MOL0663–1 (13)	Georgian Jews	None	c.[1006G>T];[2328delC]	0.10 (13)	+2.00	13	ND	a: 76.5 b: 236	174
MOL0663–2 (16)	Georgian Jews	None	c.[1006G>T];[2328delC]	0.10 (18)	−0.88	18	ND	a: 60.5 b: 283	189.5
MOL1190–1 (20)	Ashkenazi Jews	None	c.[1148delC];[c.819delC]	0.14 (31)	NA	NA	NA^a	NA^a	NA^a
MOL0344–1 (02)	Ashkenazi Jews	None	c.[467C>T];[644–1G>C]	0.10 (28)	+1.80	28	ND	a: 150 b: 200	NA**
MOL1535–1 (0.5)	Arab Christian	Yes (5:5)	c.[105_114delTCAGTCTCAG]; [105_114delTCAGTCTCAG]	0.08 (7)	+5.30	1.5	ND	Mild reduction*	NA*

^‡Best corrected visual acuity is presented as an average of the two eyes, in decimal values. To provide numerical values for low VA, the following conversions were made: NLP (no light perception)=0; LP (light perception)=0.0001; HM (hand movement)=0.001; FC (finger counting)=0.01. ^§Average of spherical equivalent of both eyes, in diopters. ND- Non-detectable. NA- Not available. ** Technical difficulties. ^a Done in different hospital. ^§§ Full field ERG testing performed according to ISCEV standard; average of the values recorded in the two eyes are shown for each of the main stimulus conditions. Limits of normal are as follows: 30Hz Cone Flicker: lower threshold of normal for amplitude-60μV; upper limit for implicit time- 33msec; Mixed cone-rod response- lower threshold of normal for b wave amplitude- 400μV; for a- wave- 100μV; Rod response- lower threshold of normal for amplitude- 200μV. * Short protocol ffERG: in young patients, a short protocol was performed under sedation. Cones are tested first under light-adapted conditions with the same reference values as above. After two minutes of dark-adaptation, a mixed cone-rod response to a standard flash is recorded (b- wave amplitude >200 μV). Rod responses cannot be accurately quantified under these conditions.