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