Table 3 of
Salles, Mol Vis 2018; 24:546-559. Table 3 of
Salles, Mol Vis 2018; 24:546-559.
Table 3. Fundus autofluorescence type III patients. Pathogenic variants in the ABCA4 gene and clinical data.
| Pt | S | Pathogenic variants | Visual acuity | Age of onset/ data collect/ disease duration (years) | |||
|---|---|---|---|---|---|---|---|
| Allele 1 | Allele 2 | ||||||
| Nucleotide change | Protein change | Nucleotide change | Protein change | RE LE | |||
| 4§ | F | c.286A>G | p.Asn96Asp† | c.286A>G | p.Asn96Asp† | 20/400 20/400 | 23/39/16 |
| 6§ | M | c.286A>G | p.Asn96Asp† | c.286A>G | p.Asn96Asp† | FC2m FC2m | 14/47/33 |
| 7 | M | c.3862+1G>A | p.? | not detected | FC20cm FC20cm | 16/63/47 | |
| 10• | F | c.4926C>G | p.Ser1642Arg | c.3056C>T | p.Thr1019Met | FC2m FC1m | 5/26/21 |
| c.5044_5058del15‡ | p.Val1682_Val1686del‡ | ||||||
| 13• | M | c.4926C>G | p.Ser1642Arg | c.1804C>T | p.Arg602Trp | FC50cm FC2m | 8/26/18 |
| c.5044_5058del15‡ | p.Val1682_Val1686del‡ | ||||||
| 15 | F | c.5714+5G>A | p.? | c.6005+1G>T | p.? | FC20cm FC10cm | 12/40/28 |
| 17• | F | c.1622T>C | p.Leu541Pro | c.3329–2A>T | p.? | HM FC10cm | 7/59/52 |
| c.3113C>T | p.Ala1038Val | ||||||
| 20• | M | c.1622T>C | p.Leu541Pro | c.3329–2A>T | p.? | HM HM | 8/65/57 |
| c.3113C>T | p.Ala1038Val | ||||||
| 23• | F | c.1622T>C | p.Leu541Pro | c.1804C>T | p.Arg602Trp | FC1.5m FC1.5m | 7/31/24 |
| c.4328G>A | p.Arg1443His | ||||||
| 24 | M | c.4457C>T | p.Pro1486Leu | c.1804C>T | p.Arg602Trp | FC1.5m FC1.5m | 15/46/31 |
| 44• | F | c.4926C>G | p.Ser1642Arg | c.66G>T | p.Lys22Asn | N/A N/A | N/A |
| c.5044_5058del15‡ | p.Val1682_Val1686del‡ | ||||||
| 30• | F | c.6088C>T | p.Arg2030* † | c.6088C>T | p.Arg2030* † | FC1.5m 20/400 | 7/38/31 |
| 37 | F | c.4003_4004delCC | p.Pro1335Argfs*86 | c.658C>T | p.Arg220Cys | 20/30 20/30 | 28/31/3 |
| 39 | F | c.1648G>A | p.Gly550Arg | not detected | FC1.5m FC1.5m | 8/36/28 | |
| 42• | M | c.2894 A>G | p.Asn965Ser | c.5381C>A | p.Ala1794Asp | 20/400 20/400 | 17/38/21 |
| 25 | M | c.5044_5058del15‡ | p.Val1682_Val1686del‡ | c.1804C>T | p.Arg602Trp | 20/400 20/400 | 7/26/19 |
| 34• | M | c.4926C>G | p.Ser1642Arg | c.1622T>C | p.Leu541Pro | N/A N/A | 7/33/26 |
| c.5044_5058del15‡ | p.Val1682_Val1686del‡ | c.4328G>A | p.Arg1443His | ||||
| 45• | F | c.1804C>T | p.Arg602Trp | c.3386G>T | p.Arg1129Leu | 20/400 20/400 | 18/61/43 |