. Author manuscript; available in PMC: 2017 Jan 1.

Published in final edited form as: Hum Genet. 2015 Nov 2;135(1):9–19. doi: 10.1007/s00439-015-1605-y

Table 2.

Summary of ABCA4-Associated Phenotypes in Affected Individuals

Subject	Onset (y)	Duration (y)	BCVA		Geographic atrophy	Extent of atrophy	Fleck Distribution	Peripapillary sparing	ABCA4 Mutation
Subject	Onset (y)	Duration (y)	OD	OS	Geographic atrophy	Extent of atrophy	Fleck Distribution	Peripapillary sparing	Allele 1	Allele 2
I-3	5	67	CF	CF	Posterior pole	Choriocapillaris	Resorbed	Partial	del/ins^a	intronic^b
I-5	5	62	CF	20/400	Extra-macular	Choriocapillaris	Resorbed	Partial	del/ins^a	intronic^b
II-1	9	34	20/400	20/200	Macular	Choriocapillaris	Resorbed/Reticular	Spared	p.C54Y	intronic^b
II-2	30	10	20/100	20/100	n/a	Outer retina	Scattered	Spared	intronic^b	p.G1961E
II-3	30	7	20/150	20/150	n/a	Outer retina	Scattered	Spared	del/ins^a	p.G1961E

c.6148-698_ c.6670del/insTGTGCACCTCCCTAG;

c.[302+68C>T;4539+2028C>T]

Abbreviations: y, years; BCVA, best-corrected visual acuity; OD, right eye; OS, left eye; CF, counting; n/a, not applicable