Molecular Vision: Cevik, Mol Vis 2023; 29:217-233. Table 1

Table 1. Phenotypic characteristics of the patients with ABCA4 mutations.

Pt. No./Sex	Age of onset/ time from onset to first seen (years)	VA first seen OD-OS	Fundus findings		OCT	GVF	ffERG	mfERG	IVFA
Pt. No./Sex	Age of onset/ time from onset to first seen (years)	VA first seen OD-OS	Flecks	Pig clumps	OCT	GVF	ffERG	mfERG	IVFA
A01F^a	15 / 8	20/200 - 20/200	Mac	RPE alt	SD	Constrict	*Photopic>Scotopic	Iso	DC
A02M^a	15 / 50	LP - LP	No	Mac	SD+GA	N/A	Iso Photopic&Scotopic	N/A	N/A
A03M	13 / 10	20/70 - 20/30	No	Mac, BB	SD	Normal	*Photopic	*Cen	No DC
A04F^b	14 / 37	20/400 - CF	No	Diffuse	SD+GA	Normal	*Scotopic>Photopic	Iso	DC
A05F^b	13 / 29	20/200 - 20/400	Mac	Mac	SD+GA	Constrict	*Photopic>Scotopic	Iso	No DC
A06F	8/0	20/30 - 20/25	Diffuse	CHRPE	SD	Normal	*Photopic	*Cen	N/A
A07M^c	12/2	20/125 - 20/100	Mac	RPE alt	SD	Normal	*Photopic	Iso	N/A
A08M^c	14 / 3	20/60 - 20/200	Mac	RPE alt	SD+GA	Constrict	Normal	*Cen	DC
A09M	6/0	20/80 - 20/200	No	No	SD+GA	N/A	*Photopic	Iso	No DC
A10M	10/0	20/100 - 20/125	Diffuse	Mac, BB	SD+GA	N/A	*Photopic	*Cen	DC
A11F	7/1	20/80 - 20/80	No	No, BB	SD	Normal	Borderline photopic	*Cen	N/A
A12F	9/2	20/125 - 20/200	Diffuse	No, BB	SD+GA	Central sco	*Photopic	*Cen	N/A
A13M	11/2	20/40 - 20/30	No	No, Bulls	Normal	Normal	N/A	*Cen	DC

^aConsanguinity in the family. ^b A04F and A05F are siblings. ^c A07M and A08M are siblings. Abbreviation Pt: Patient, BB: “beaten bronze” appearance, CF: count fingers, CHRPE: Congenital Hypertrophy of the Retinal Pigment Epithelium, Dif: diffuse, IVFA: Intravenous fluorescein angiography, Mac: Macular, OCT: Optical coherence tomography, GA: geographic atrophy, SD: subretinal deposits, N/A: not applicable, LP: Light perception GVF: Goldmann visual field, Constrict: constrict visual field, Central sco: Central scotoma, ffERG: full-field electroretinography, *P: Abnormal photopic, *Photopic>Scotopic: Abnormal photopic more affected than scotopic, IsoPhotopic&Scotopic: Isoelectric photopic and scotopic, *Scotopic>Photopic: Abnormal scotopic more affected than photopic, mfERG: multifocal electroretinography, *Central: Abnormal central part of mfERG, Iso: isoelectric mfERG.