Molecular Vision: Aweidah, Mol Vis 2021; 27:588-600. Table 2

Table 2. Patients with achromatopsia due to the c.1663-1205G>A deep intronic CNGB3 variant.

Patient ID (Age at diagnosis, years)	Origin	Consanguinity	Genotype	Visual Acuity^‡ (Age at visual acuity test, years)	Spherical Equivalent (SE)^§	Full Field ERG amplitudes (μV)^§§
Patient ID (Age at diagnosis, 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)
MOL0956–1 (28)	Iraqi Turkish Jewish	None	c.[1663–1205G>A];[1663–1205G>A]	0.32 (28)	−4.75	28	ND	NA^a	NA^a
MOL1029–1 (0.5)	Iraqi Jewish	Yes (2:2)	c.[1663–1205G>A];[1663–1205G>A]	0.13 (27)	+1.06	27	ND	a: 168 b: 331	262
MOL1249–1 (06)	Mixed Jewish^b (Iraq, Spain and Yugoslavia)	None	c.[1663–1205G>A];[1663–1205G>A]	0.10 (6)	+5.75	6	ND	a: 64 b: 304	240
MOL1269–1 (01)	Iraqi Jewish	Yes (2:2)	c.[1663–1205G>A];[1663–1205G>A]	0.28 (30)	−2.69	28	ND	a: 183 b: 233	177
MOL1548–1 (21)	Tunisian Jewish	Yes (3:3, 4:4)	c.[1663–1205G>A];[1663–1205G>A]	0.09 (22)	−1.50	22	ND	a: 134 b: 323	289
MOL1548–2 (0.5)	Tunisian Jewish	Yes (3:3, 4:4)	c.[1663–1205G>A];[1663–1205G>A]	NA	High myopia	NA	NA^a	NA^a	NA^a
MOL1548–3 (17)	Tunisian Jewish	Yes (3:3, 4:4)	c.[1663–1205G>A];[1663–1205G>A]	0.07 (17)	−6.94	NA	NA^a	NA^a	NA^a
MOL0661–1 (03)	Mixed Jewish^b (Iraq, Romania / Poland)	None	c.[644–1G>C];[1663-1205G>A]	0.12 (15)	−1.56	3	ND	Mild reduction*	Normal*
MOL0831–1 (12)	Mixed Jewish^b (Tunisia / Turkey, Algeria)	None	c.[1148delC];[1663-1205G>A]	0.10 (12)	−2.75	12	ND	a: 92 b: 258	131.50
MOL0831–3 (06)	Mixed Jewish^b (Tunisia / Turkeyh, Algeria)	None	c.[1148delC];[1663-1205G>A]	0.10 (6)	+6.40	6	ND	Moderate reduction*	NA*
MOL1277–1 (06)	Ashkenazi Jews	None	c.[644–1G>C];[1663-1205G>A]	0.20 (14)	+3.50	12	ND	a: 176 b: 229	252
MOL1277–2 (01)	Ashkenazi Jews	None	c.[644–1G>C];[1663-1205G>A]	0.18 (10)	+2.5	NA	NA^a	NA^a	NA^a
MOL1505–1 (01)	Mixed Jewish^b (Iraq / Iraq, Austria)	None	c.[467C>T];[1663–1205G>A]	0.12 (12)	−1.81	11	ND	a: 196 b: 179	Normal
MOL1848–1 (06)	Mixed Jewish^b (Iraq/Morocco, Iraq/Turkey)	None	c.1148delC;1663-1205G>A	0.16 (12)	−1.50	6	ND	a: 68 b: 215	198
MOL1894–1 (13)	Mixed Jewish^b (Egypt/ Egypt, Iraq)	None	c.467C>T;1663–1205G>A	0.12 (41)	−6.65	NA	ND	NA^a	NA^a
MOL1894–2 (01)	Mixed Jewish^b (Egypt / Egypt, Iraq)	None	c.467C>T;1663–1205G>A	0.17 (46)	+2.50	NA	ND	NA^a	NA^a
MOL1954–1 (02)	Mixed Jewish^b (Yemen, Bulgaria / Ukraine)	None	c.[1578+1G>A];[1663-1205G>A]	CSM (2)	−0.75	2	ND	Mild reduction*	Reduced*

^‡Best corrected visual acuity is presented as an average of the two eyes, in decimal values. To provide numerical values for low visual acuity, 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. CSM- Central, steady, and maintained. ^a Done in different hospital. ^b Mixed Jewish (Father origin/ Mother origin). ^§§ 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.