Table 1 of Joo, Mol Vis 2019; 25:679-690.

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