. Author manuscript; available in PMC: 2016 Jan 31.

Published in final edited form as: Ophthalmology. 2014 Oct 3;122(2):345–355. doi: 10.1016/j.ophtha.2014.08.017

Table.

Summary of Demographic, Clinical and Genetic Data

Patient	Gender	Age	Race/Ethnicity	BCVA (logMAR)		Genetic data		qAF₈
Patient	Gender	Age	Race/Ethnicity	OD	OS	Genetic data		OD	OS
						ABCA4 mutations
						Allele 1	Allele 2
1	M	36	White	0.70	0.70	p.G1961E	p.G1961E	282	279
2	F	46	White	0.40	0.40^†	p.G1961E	p.R1129C	391
3	M	17	Asian Indian	0.70	0.88	p.G1961E	c.6729+4_+18del	340	363
4	M	17	White	0.88	0.88	p.G1961E	p.A1773V	340	366
5	M	21	White	0.88	0.88	p.G1961E	p.W15*	341	325
6	F	22	White	0.70	0.48	p.G1961E	p.G863A	361	351
7	F	20	White	0.70^‡	0.88^‡	p.G1961E	p.L541P	317
8	M	12	White	0.80	0.70	p.G1961E	p.P1380L	251	242
9	F	21	White	0.88	0.88	p.G1961E	p.R212C	407	439
10	F	26	White	0.40^‡	0.70^‡	p.G1961E	c.5196+1056A>G	379	344
11	F	24	White	0.88^‡	0.88^‡	p.G1961E	p.C2150R	405	396
12	F	24	White	0.30^‡	0.18^‡	p.G1961E	p.N96D	513	549
13	F	20	White	0.30	0.40	p.G1961E	p.N96D	397	355
14	M	25	White	0.00^†	0.30	p.G1961E	p.Q1003*	322	328
15	M	8.2	White	0.88	0.88	p.[L541P;A1038V]		438	432
16	M	25	White	0.60	0.60	p.S84fs	p.R2107H	294
17	F	24	Black	0.70	0.88	p.G991R	p.L1138P	321	326
18	M	26	White	0.00^†	0.00^†	p.R1300*	p.R2106C	419	412
19	M	11	White	0.40^‡	0.40^‡	p.W821R	p.C2150Y	304	296
20	F	16	White	0.70	0.40	p.K1547*	p.R2030Q	481	513
21	F	13	White	1.30	1.00	pR1108C	p.Q1412*	511	528
22	F	18	White	0.00	0.00	p.G863A	c.5898+1G>A	465	431
						Mutations in other genes
23	F	16	White	0.40	0.48	GUCY2D - p.R838H		152	165
24	M	53	Black	0.88	0.88	CNGA3 - p.[R223W; R223Q]			259
25	M	28	Hispanic	0.30^†	0.30^†	CRX - p.S150*		346	349
26	F	51	Hispanic	0.88	1.30	CRX - p.S150*		277	284
27	F	35	White	0.88	0.88	ND		443
28	M	48	Black	0.40^†	0.18	RPGR - p.N1132fs		293	283
29	M	51	Hispanic	1.00	1.00	ND		359
30	M	57	White	0.48	0.48^†	WES, ND		320	364
31	M	38	White	0.48	0.48	WES, ND		226	237
32	M	33	Black	0.70	0.70	ND		285	303
33	F	22	White	0.60	0.48	WES, ND		239	279
34	F	60	White	0.30	1.70	ND		486	536
35	M	54	White	0.70	0.88	ND		349	436
36	M	21	White	0.60	0.88	WES, ND		239
37	M	57	White	0.10^†	1.18	ND		447	414

BCVA, best corrected visual acuity; logMAR, logarithm of the minimum angle of resolution; OD, right eye; OS, left eye qAF₈, average quantitative autofluorescence of the 8 measurement sites from all available images per eye

^†

= foveal sparing

^‡

= optical empty lesion; WES = whole exome sequencing; ND = not determined