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

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.