Table 1. Clinical features of ABCA4-associated retinopathies in Korean patients.
| Family |
Patients |
Sex |
Age |
Age at onset (years) |
Clinical diagnosis |
CDS variants |
Protein variation |
BCVA (Snellen) |
Fundus, FAG findings |
Full field ERG findings |
|
|---|---|---|---|---|---|---|---|---|---|---|---|
| ID | ID | (years) | Right | Left | |||||||
| F1 |
H27 |
F |
28 |
NA |
STGD |
c.6146delA |
p.Lys2049ArgfsTer12 |
20/250 |
HM |
Flecks, macular atrophy |
Normal |
| |
|
|
|
|
|
c.1933G>A |
p.Asp645Asn |
|
Dark choroid |
||
| F2 |
H62 |
M |
23 |
11 |
STGD |
c.6146delA |
p.Lys2049ArgfsTer12 |
20/500 |
20/320 |
Flecks, macular atrophy |
Normal |
| |
|
|
|
|
|
c.3349A>G |
p.Thr1117Ala |
|
Dark choroid |
||
| F3 |
H75 |
M |
21 |
14 |
STGD |
c.4762A>T |
p.Asn1588Tyr |
20/500 |
20/200 |
Flecks, macular atrophy |
Normal |
| |
|
|
|
|
|
c.1760+2T>G |
Splice site |
|
Dark choroid |
||
| F4 |
H147 |
F |
28 |
11 |
STGD |
c.3420C>G c.3342_3344delCAT |
p.Cys1140Trp |
20/500 |
20/500 |
Flecks, macular atrophy |
Cone↓, Rod ↓ |
| |
|
|
|
|
|
|
p.Ile1114del |
|
Dark choroid, BM hole |
||
| F4 |
H148 |
F |
20 |
NA |
STGD |
c.3420C>G |
p.Cys1140Trp |
20/320 |
20/500 |
Flecks, macular atrophy |
Cone↓ |
| |
|
|
|
|
|
c.3342_3344delCAT |
p.Ile1114del |
|
Dark choroid |
||
| F5 |
H234 |
F |
22 |
16 |
STGD |
c.3470T>G |
p.Leu1157Ter |
20/125 |
20/125 |
Macular atrophy |
Rod↓↓ |
| |
|
|
|
|
|
c.869G>A |
p.Arg290Gln |
|
Dark choroid |
||
| F6 |
H278 |
M |
11 |
11 |
STGD |
c.4762A>T |
p.Asn1588Tyr |
20/63 |
20/100 |
Flecks |
Normal |
| |
|
|
|
|
|
c.3470T>G |
p.Leu1157Terr |
|
Macular atrophy |
||
| F7 |
H830 |
F |
51 |
48 |
FF |
c.575C>T |
p.Ala192Val |
20/20 |
20/20 |
Flecks |
Rod↓ |
| F8 |
H91 |
F |
18 |
4 |
RP |
c.1906C>A |
p.Gln636Lys |
CF |
HM |
Extensive CR atrophy |
No cone & rod response |
| |
|
|
|
|
(early-onset) |
c.880C>T |
p.Gln294Ter |
|
Diffuse pigmentation |
||
| F9 |
H144 |
F |
15 |
5 |
CRD |
c.4748T>C |
p.Leu1583Pro |
20/500 |
20/200 |
Macular atrophy |
Cone↓↓, Rod↓↓ |
| |
|
|
|
|
|
c.1906C>A |
p.Gln636Lys |
|
|
|
|
| F9 |
H145 |
M |
19 |
4 |
CRD |
c.4748T>C |
p.Leu1583Pro |
20/200 |
20/500 |
Macular atrophy |
Cone↓↓, Rod↓↓ |
| c.1906C>A | p.Gln636Lys |
||||||||||
BCVA, best-corrected visual acuity; STGD, Stargardt disease; FF, fundus flavimaculatus; RP, retinitis pigmentosa; CRD, cone-rod dystrophy; BM, Bruch’s membrane; CR, chorioretinal; HM, hand motion; CF, counting finger. p.R290Q in H234, a patient with STGD features, is a rare variant (allele frequency: 3.995e-6 (%) in gnomAD) and has not been reported. However, the pathogenicity of this variant was predicted as benign by most prediction programs, including polyphen, SIFT, and MutationTaster.