Research Article
Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease
Table 1
Demographics and clinical characteristics of patients with Stargardt macular dystrophy.
| Patient number | Sex | Age | Age at onset | First allele | Second allele | BCVA RE (Snellen decimals) | BCVA LE (Snellen decimals) | FERG 1F RE (μV) | FERG 1F LE (μV) |
| 1 | F | 22 | 15 | p.R1098C | — | 0.1 | 0.1 | 0.51 | 0.28 | 2 | F | 33 | 10 | p.V767D | p.R2030X | 0.05 | 0.1 | 0.17 | 0.2 | 3 | M | 25 | 15 | p.Gly1961Glu, p.Gln1332_cys1339dup | p.Val2026ThrfsX52 | 0.4 | 0.4 | 0.52 | 0.43 | 4 | F | 63 | 35 | p.Gly1961Glu | — | 0.15 | 0.15 | 0.68 | 0.38 | 5 | M | 58 | 32 | p.Gly991Arg, p.Glu1087Lys | p.Arg1300Gln | 0.02 | 0.02 | 0.52 | 0.52 | 6 | M | 33 | 14 | p.Asn78Ser | p.Trp880Cys | 0.02 | 0.01 | 0.21 | 0.15 | 7 | M | 50 | 24 | p.R1098C | — | 0.4 | 0.8 | 0.52 | 0.59 | 8 | F | 16 | 9 | p.Q2220X | p.R943Q | 0.1 | 0.1 | 0.08 | 0.06 | 9 | M | 41 | 16 | c.634C>T | c.1497G>C | 0.2 | 0.2 | 0.74 | 0.39 | 10 | F | 37 | 21 | c.4771G>A | — | 0.1 | 0.1 | 0.2 | 0.22 | 11 | M | 11 | 8 | c.247_250dup | c.4139C>T | 0.8 | 0.8 | 0.26 | 0.34 | 12 | M | 41 | 5 | p.His423Arg | p.Arg943Gln | 0.1 | 0.02 | 0.18 | 0.15 | 13 | F | 18 | 10 | IVS35+2T>C | IVS40+5G>A | 0.2 | 0.2 | 0.63 | 0.3 | 14 | M | 48 | 43 | c.5714+5G>A | — | 1.0 | 1.0 | 0.33 | 0.46 | 15 | F | 39 | 9 | p.Arg18Trp | p.Val767Asp | 0.05 | 0.1 | 0.33 | 0.35 | 16 | M | 15 | 9 | p.Gly1961Glu | p. Ser2255Ile | 0.1 | 0.1 | 0.79 | 0.7 | 17 | M | 47 | 19 | p.Thr897Ile | — | 0.01 | 0.05 | 0.1 | 0.09 | 18 | M | 36 | 31 | p.Gln21Ter, p.Arg943Gly | p. Arg212His, p.Gly1961Glu | 0.1 | 0.1 | 0.37 | 0.46 | 19 | M | 16 | 13 | p.Trp821Arg p.Gly1961Glu | p. Tyr850Cys | 0.9 | 0.9 | 0.1 | 0.2 | 20 | F | 31 | 21 | p.Thr977Pro | c.IVS40+5G>A | 0.2 | 0.1 | 0.46 | 0.15 | 21 | F | 22 | 15 | p.Gly1961Glu | c.4709_4711delA | 0.1 | 0.1 | 0.57 | 0.45 | 22 | M | 48 | 13 | p.Gly1961Glu | p.His1406ProfsX29 | 0.1 | 0.1 | 0.19 | 0.25 | 23 | M | 16 | 8 | p.Val931Met | p.Val931Met | 0.1 | 0.1 | 0.57 | 0.4 | 24 | M | 42 | 8 | p.Val256splice | p.Trp1479X | 0.01 | 0.005 | 0.14 | 0.16 | 25 | M | 21 | 14 | IVS13+1g>a | IVS40+5g>40 | 0.1 | 0.15 | 0.2 | 0.17 | 26 | F | 23 | 17 | p.Tyr850Cys, p.Thr959Ala | p.Gly1961Glu | 0.3 | 0.3 | 0.07 | 0.09 | 27 | F | 56 | 23 | p.Gly1961Glu | p.Gly1961Glu | 0.8 | 0.1 | 0.16 | 0.31 | 28 | M | 52 | 20 | p.Arg1108His | p.Gly1961Glu | 0.1 | 0.4 | 0.48 | 0.93 | 29 | F | 31 | 14 | p.P1486L | p.W700X | 1.0 | 1.0 | 0.13 | 0.03 | 30 | F | 12 | 8 | p.Tyr1400X | p.Val931Met | 0.2 | 0.2 | 0.45 | 0.46 | 31 | F | 77 | 13 | p.Ala1598Asp | p.Val2062fsX2113 | 0.1 | 0.1 | 0.24 | 0.33 | 32 | F | 11 | 10 | IVS6-1G>T | p.Asn1436Ile | 0.2 | 0.2 | 0.66 | 0.95 | 33 | M | 44 | 10 | IVS45+1G>A | p.Gly1961Glu | 0.1 | 0.1 | 0.14 | 0.15 |
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