Table 1.
Pathogenic ABCA4 Variants in Patients of African American Descent
| Patient | Clinical Assessment |
BCVA |
CNV | ||||
|---|---|---|---|---|---|---|---|
| ID | Diagnosis | Stage | Onset decade | OD | OS | analysis | ABCA4 mutations |
| 1 | STGD1 | 2 | 8th | 20/25 | 20/25 | p.[(P1380L)];[?] | |
| 2 | STGD1 | 2 | 5th | 10/100 | 10/160 | X | p.[(R220C(;)R2107H)] |
| 3 | STGD1 | 1 | 4th | 20/30 | 20/200 | p.[(G1961E(;)D403V)] | |
| 4 | STGD1 | 2–3 | 3rd | 20/400 | 20/100 | X | p.[(W1408L(;)R2107H)] |
| 5 | STGD1 | 0 | 5th | 20/200 | 20/50 | X | p.[(P62S)];[?] |
| 6 | STGD1 | 1 | 7th | 20/25-2 | 20/25-3 | X | p.[(R2107H)];[?] |
| 7 | STGD1 | N/A | 4th | 20/70+2 | 20/25-2 | X | p.[(P309R(;)R681*)] |
| 8 | STGD1 | 1 | 4th | 20/15-3 | 20/20+1 | X | p.[(G991R(;)L1126P)] |
| 9 | STGD1 | N/A | 2nd | 20/400 | 20/400 | X | c.5289del(;)p.(V989A) |
| 10 | STGD1 | N/A | N/A | N/A | N/A | p.[(R2077G(;)R2107H)] | |
| 11 | STGD1 | 2 | 3rd | 20/200 | 20/200 | X | c.3523-1G>A(;)p.(R2107H) |
| 12 | STGD1 | 2 | 4th | 20/20 | 20/20 | X | p.[(G991R)];[?] |
| 13 | STGD1 | 1 | 4th | 20/70+2 | 20/25-2 | no mutations found | |
| 14 | STGD1 | 3 | 1st | 20/400 | 20/400 | X | c.768G>T(;)p.(R2107H) |
| 15 | STGD1 | 1 | 5th | 20/50-2 | 20/40 | X | p.[(V989A(;)R2107H(;)P870S)] |
| 16 | STGD1 | 2–3 | 1st | 20/400 | 20/300 | X | p.[(G607R(;)R2040Q)] |
| 17a | STGD1 | 1 | 2nd | 10/100-1 | 10/60-1 | X | p.[(P309R(;)R537C(;)R2107H)] |
| 18 | STGD1 | 2 | 1st | 20/400 | 20/400 | X | c.5461-10T>C(;)p.(R2040Q) |
| 19 | STGD1 | 2 | 2nd | 10/120+1 | 10/100-1 | c.5461-10T>C(;)p.(E531G) | |
| 20 | STGD1 | 1 | 3rd | 20/80-2 | 20/125+1 | No mutations found | |
| 21a | STGD1 (BEM) | 1 | 2nd | 20/100 | 20/150 | X | p.[(G991R)];[(L1138P)] |
| 22a | STGD1 | 2 | 3rd | 20/400 | 20/50-2 | c.4537dup;p.(V1686M) | |
| 23 | STGD1 | 2 | 2nd | 20/125 | 20/125 | p.[(R1640W)];[?] | |
| 24 | CRD | 3 | 1st | CF | CF | p.[(T983A(;)L1729P)] | |
| 25 | STGD1 | 1 | 4th | 20/30+2 | 20/40-2 | X | p.[(V989A)];[(V989A)] |
| 26 | STGD1 | 3 | 2nd | 20/150 | 20/25 | p.[(N965S(;)R2040Q)] | |
| 27a | CRD | 3 | 1st | CF | CF | X | c.4540-2A>G;p.(R2107H) |
| 28 | STGD1 | 2 | 6th | 20/30 | 20/40-1 | X | c.5461-10T>C;[?] |
| 29 | STGD1 | 1 | 6th | 20/20 | 20/20 | X | p.[(F1015L)];[?] |
| 30 | STGD1 (BEM) | 1 | 5th | 20/50 | 20/30 | No mutations found | |
| 31 | STGD1 (BEM) | 1 | 6th | 20/20 | 20/20 | p.[(R2107H)];[?] | |
| 32 | STGD1 (BEM) | 1 | 3rd | 20/20 | 20/20 | X | p.[(R1300*(;)R2106C)] |
| 33 | STGD1 (BEM) | 1 | 5th | 20/100 | 20/125 | p.[(R2107H)];[?] | |
| 34 | STGD1 | 3 | 3rd | LP | LP | p.[(R2107H)];[?] | |
| 35 | STGD1 | 2 | 5th | 20/40+1 | 20/40 | X | p.[(W339G(;)R2107H)] |
| 36 | STGD1 | 3 | 1st | 20/30 | 20/40 | No mutations found | |
| 37 | STGD1 | 1 | 5th | 20/25 | 20/25-1 | p.[(I975M(;)K1978E)] | |
| 38 | STGD1 | 2 | 2nd | 20/200 | 20/200 | p.[(V989A)];[?] | |
| 39 | STGD1 | 1 | 3rd | 20/100-1 | 20/200+1 | c.302+1G>A(;)p.(R2107H) | |
| 40 | STGD1 (BEM) | 1 | 7th | 20/20-3 | 20/20-3 | p.[(R2107H)];[(R2107H)] | |
| 41 | STGD1 | 1 | 3rd | 30/30-2 | 20/100 | No mutations found | |
| 42 | STGD1 (BEM) | 1 | 5th | 20/40-2 | 20/50-2 | No mutations found | |
| 43 | CRD | N/A | 3rd | 5/180+1 | 5/160+1 | X | p.[(V989A)];[?] |
| 44a | STGD1 | 2 | N/A | N/A | N/A | c.4253+4C>T(;)p.[(G1961E(;)R2107H)] | |
Nucleotide positions and protein translation correspond to CCDS747.1 and NP_000341.2, respectively. Nucleotide numbering uses the A of the ATG translation initiation start site as nucleotide 1.
BCVA: best corrected visual acuity; CNV: copy number variation; N/A: not available; CF: counting fingers; LP: light perception.
a
The variants are confirmed on different chromosomes.