Table 1.
Treatment outcomes of case and cohort studies with Sorsby’s fundus dystrophy, part I.
| Patient | First Author | Year of Publication | Gender | NR of Eyes | Age at Onset | Family History Positive | Prior Treatment | VA before Onset | Eye | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Sivaprasad | 2008 | m | 1 | nr | yes | PDT | nr | nr | ||||
| 2 | Gemenetzi | 2011 | f | 2 | 34 | yes | no | nr | r | ||||
| 2 | Gemenetzi | 2011 | f | 37 | yes | PDT | 1.00 | l | |||||
| 3 | Gemenetzi | 2011 | f | 1 | 44 | yes | no | 1.00 | r | ||||
| 4 | Gray | 2012 | f | 1 | 38 | yes | no | nr | l | ||||
| 5 | Balaskas | 2013 | m | 1 | 41 | nr | no | 1.25 | r | ||||
| 6 | Copete-Piqueras | 2013 | m | 2 | 32 | nr | no | nr | r | ||||
| 6 | Copete-Piqueras | 2013 | m | 32 | nr | no | nr | l | |||||
| 7 | Fung | 2013 | m | 1 | 44 | yes | no | 1.00 | r | ||||
| 8 | Kapoor | 2013 | m | 2 | 57 | yes | no | 1.25 | r | ||||
| 8 | Kapoor | 2013 | m | 57 | yes | no | 1.00 | l | |||||
| 9 | Gliem | 2015 | nr | 1 | 54 | yes | no | 1.00 | l | ||||
| 10 | Gliem | 2015 | nr | 1 | 56 | yes | no | 1.00 | r | ||||
| 11 | Gliem | 2015 | m | 1 | 45 | yes | no | 1.00 | r | ||||
| 12 | Keller | 2015 | m | 2 | 32 | yes | nr | nr | r | ||||
| 12 | Keller | 2015 | m | 32 | yes | PDT | nr | l | |||||
| 13 | Keller | 2015 | m | 2 | 28 | yes | no | nr | r | ||||
| 13 | Keller | 2015 | m | 28 | yes | no | nr | l | |||||
| 14 | Mohla | 2016 | f | 1 | 52 | nr | no | 0.63 | r | ||||
| 15 | Menassa | 2017 | m | 2 | 44 | yes | no | 1.60 | r | ||||
| 15 | Menassa | 2017 | m | 38 | yes | no | nr | l | |||||
| 16 | Tsokolas | 2020 | f | 2 | 34 | yes | no | nr | r | ||||
| 16 | Tsokolas | 2020 | f | 37 | yes | PDT | nr | l | |||||
| 17 | Tsokolas | 2020 | f | 2 | 36 | yes | no | 1.25 | r | ||||
| 17 | Tsokolas | 2020 | f | 38 | yes | no | 1.00 | l | |||||
| 18 | Own patient | 2004 | m | 2 | 33 | yes | no | nr | r | ||||
| 18 | Own patient | 2004 | m | 33 | yes | no | nr | l | |||||
| 19–23 * | Kaye | 2017 | nr | 5 | nr | nr | nr | nr | nr | ||||
| 24–31 * | Sanz | 2013 | 62.5% m | 9 | 45.3 (6.9) | nr | nr | nr | nr | ||||
| Mean | 62.5% m | 41 | 41.2 | 48.4% | 9.8% | 1.08 | |||||||
| Patient | First Author | VA at Onset | Treatment Delay (Months) | Last VA | Follow-Up after Onset of Anti-VEGF Treatment (Months) | Total Number of Intravitreal Injections | Drug | Mutation | |||||
| 1 | Sivaprasad | 0.50 | 2 | 0.50 | 6 | 2 | 2 Bev | Ser181Cys | |||||
| 2 | Gemenetzi | 0.10 | 0 | 0.16 | 33 | 6 | 6 Bev | p.S204C | |||||
| 2 | Gemenetzi | 1.60 | 0.75 | 1.25 | 5 | 3 | 3 Bev | p.S204C | |||||
| 3 | Gemenetzi | 0.10 | 0 | 1.00 | 3 | 1 | 1 Bev | p.S204C | |||||
| 4 | Gray | 1.00 | 1.5 | 1.00 | 13 | 3 | 3 Bev | Ser181Cys | |||||
| 5 | Balaskas | 0.16 | nr | 0.40 | 27 | 14 | 14 Ran | c.610A4T (p.Ser204Cys) | |||||
| 6 | Copete-Piqueras | 0.63 | 0 | 1.00 | 6 | 1 | 1 Ran | mutations in Exon 5 of gene 22.12.3 | |||||
| 6 | Copete-Piqueras | 0.80 | 0 | 1.00 | 6 | 1 | 1 Ran | mutations in Exon 5 of gene 22.12.3 | |||||
| 7 | Fung | 0.63 | 0 | 0.80 | 48 | 6 | 6 Bev, PDT | Tyr159Cys | |||||
| 8 | Kapoor | 0.50 | 0 | 0.10 | 55 | 8 | 8 Bev, several Bev-Dex | normal coding sequence (codons 124–188 of the mature protein) | |||||
| 8 | Kapoor | 0.63 | 0 | 0.40 | 77 | 31 | 8 Bev, min. 18 Bev-Dex, 5 Ran, PDT | normal coding sequence (codons 124–188 of the mature protein) | |||||
| 9 | Gliem | 0.80 | 0 | 1.00 | 12 | 1 | 1 Bev | c.530A > G (p.Tyr200Cys) | |||||
| 10 | Gliem | 0.63 | 0 | 1.00 | 8 | nr | multiple Bev | c.530A > G (p.Tyr200Cys) | |||||
| 11 | Gliem | nr | 0 | 1.00 | nr | 35 | 35 Bev | c.545A > G(p.Tyr182Cys) | |||||
| 12 | Keller | nr | nr | 0.70 | 60 | nr | several Ran and Bev | nr | |||||
| 12 | Keller | nr | nr | 0.03 | 60 | 3 | PDT, 3 Ran | nr | |||||
| 13 | Keller | nr | nr | 0.10 | 48 | nr | Multiple Ran | nr | |||||
| 13 | Keller | 1.00 | nr | 0.20 | 48 | nr | Multiple Ran | nr | |||||
| 14 | Mohla | 0.10 | 0 | 0.32 | 7 | 2 | 2 Bev | p.Arg204Cys | |||||
| 15 | Menassa | 1.25 | 0.3 | 0.80 | 6 | 5 | 5 Ran | c.610A > T | |||||
| 15 | Menassa | nr | nr | 0.10 | nr | 6 | 6 Ran | c.610A > T | |||||
| 16 | Tsokolas | 0.10 | 0 | 0.08 | 144 | 5 | 5 Bev | Ser204Cys | |||||
| 16 | Tsokolas | 1.25 | 1 | 0.16 | 108 | 79 | 79 Bev | Ser204Cys | |||||
| 17 | Tsokolas | nr | 4 | 0.06 | 72 | 24 | 24 Bev | Ser204Cys | |||||
| 17 | Tsokolas | nr | 0 | 0.50 | 60 | 42 | 42 Bev | Ser204Cys | |||||
| 18 | Own patient | 0 | 1.0 | 192 | 24 | 3 PDT, Tri, 24 Ran | mutation in the TIMP3 gene | ||||||
| 18 | Own patient | 0 | 0.16 | 192 | 9 | 4 PDT, multiple Tri, 9 Ran | mutation in the TIMP3 gene | ||||||
| 19–23 * | Kaye | 0.8 (0.8) | nr | 0.2 (0.4) | Min. 60 | 16 | Bev | mutation in tissue inhibitor of metalloproteinases-3 (TIMP3) | |||||
| 24–31 * | Sanz | 0.25 (0.2) | nr | nr | nr | 9.11 (6.01) | Bev, Ran | p.Ser204Cys | |||||
| Mean | 0.56 | 0.45 | 0.49 | 54 | 12.78 | ||||||||
Abbreviations: nr, not reported; VA, Snellen visual acuity; FU, follow-up; f, female; m, male; r, right eye; l, left eye; nr, not reported; Bev, bevacizumab; Dex, dexamethasone; Ran, ranibizumab; PDT, photodynamic therapy; Tri, triamcinolone. * Cohort studies: values are reported as mean (standard deviation).