Table 1.

Summary of Patient Demographics and Clinical Findings Confirming Diagnosis

Subject	Sex/Age	Stage	BCVA (OD, OS)	Fundus Findings	Disease-Associated Variants in ABCA4	Full-Field ERG
1	F/31	1	20/125, 20/125	OU: Atrophic macular lesion with parafoveal flecks	Heterozygous: Q636X	Normal rod, normal cone
2	F/41	1	20/25, 20/40	OU: Bull’s eye–appearing lesion with parafoveal flecks	No mutation found	Normal rod, normal cone
3	F/45	1	20/25, 20/20	OU: Bull’s eye–appearing lesion with parafoveal flecks	Compound heterozygous: I975M and K1978E	—
4*	M/21	1	20/40, 20/40	OU: Bull’s eye–appearing lesion with parafoveal flecks	Compound heterozygous: R219T, W439X, and G863A	Normal rod, normal cone
5*	F/23	1	20/30, 20/20	OU: Bull’s eye–appearing lesion with parafoveal flecks	Compound heterozygous: R219T, W439X, and G863A	—
6	F/32	1	20/80, 20/125	OU: Bull’s eye–appearing lesion with parafoveal flecks	No mutation found	—
7	F/30	1	20/25, 20/25	OU: Bull’s eye–appearing lesion with parafoveal flecks	Heterozygous: R2077W	Normal rod, normal cone
8	M/33	2	20/125, 20/160	OU: Bull’s eye–appearing lesion with flecks throughout posterior pole	Heterozygous: K2056X	Normal rod, normal cone
9	M/47	2	20/160, 20/40	OU: Bull’s eye–appearing lesion with flecks throughout posterior pole	Heterozygous: E1087K	Normal rod, subnormal cone
10	F/42	2	20/25, 20/25	OU: Bull’s eye–appearing lesion with flecks throughout posterior pole	Compound heterozygous: G550R and R2030Q	Normal rod, normal cone
11	F/32	2	20/200, 20/200	OU: Hyperpigmented atrophic macular lesion with flecks throughout posterior pole	Heterozygous: IVS38-10 T>C	Normal rod, subnormal cone
12	F/21	2	20/160, 20/160	OU: Atrophic RPE changes in macula with flecks throughout the posterior pole	No mutation found	Normal rod, subnormal cone
13	F/60	2	20/20, 20/20	OU: No evidence of an atrophic lesion in the fovea, diffuse flecks throughout posterior pole, fundus flavimaculatus phenotype	Compound heterozygous: G1961E and G1532N	—
14	F/34	3	20/200, 20/250	OU: Severe RPE and choroidal atrophic changes in macula and throughout posterior pole and midperiphery, flecks throughout posterior pole	Compound heterozygous: G818E and C1488R	Subnormal rod, subnormal cone
15	M/47	3	20/64, 20/125	OU: Atrophic macular lesion with relative foveal sparing, flecks throughout posterior pole	Compound heterozygous: G863A and IVS1-2A>G	—
16*	M/40	3	20/200, 20/160	OU: Severe RPE and choroidal atrophic changes in macula and throughout posterior pole and midperiphery, parafoveal flecks at onset	Compound heterozygous: IVS38-10 T>C and IVS40+5 G>A	Subnormal rod, subnormal cone
17	M/53	3	20/25, 20/32	OU: Marked RPE and choroidal atrophic changes in the macula with relative foveal sparing, resorbing flecks apparent throughout posterior pole	Heterozygous: G1975R	—
18*	F/53	3	20/200, 20/250	OU: Severe RPE and choroidal atrophic changes in macula and throughout posterior pole and midperiphery, parafoveal flecks at onset	Compound heterozygous: IVS38-10 T>C and IVS40+5 G>A	Subnormal rod, subnormal cone
19*	M/50	3	20/160, 20/250	OU: Severe RPE and choroidal atrophic changes in macula and throughout posterior pole and midperiphery, parafoveal flecks at onset	Compound heterozygous: IVS38-10 T>C and IVS40+5 G>A	Subnormal rod, subnormal cone
20	F/34	3	20/160, 20/160	OU: Bull’s-eye appearing lesion with flecks throughout posterior pole	Compound heterozygous: L541P, A1038V, and D576H	Subnormal rod, subnormal cone
21*	M/39	3	20/250, 20/250	OU: Severe RPE and choroidal atrophic changes in macula and throughout posterior pole and midperiphery, parafoveal flecks at onset	Compound heterozygous: IVS38-10 T>C and IVS40+5 G>A	—
22	M/60	3	20/20, 20/20	OU: Marked RPE and choroidal atrophic changes in the macula and throughout posterior pole with relative foveal sparing, few residual fundus flecks apparent	No mutation found	Subnormal rod, subnormal cone

M, male; F, female; OD, right eye; OS, left eye; OU, both eyes; BCVA, best-corrected visual acuity.

^*Same family.