Table 2 of
Salles, Mol Vis 2018; 24:546-559. Table 2 of
Salles, Mol Vis 2018; 24:546-559.
Table 2. Fundus autofluorescence type II 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 | |||
| 3• | F | c.4926C>G | p.Ser1642Arg | c.2791G>A | p.Val931Met | 20/150 20/150 | 14/37/23 |
| c.5044_5058del15‡ | p.Val1682_Val1686del‡ | ||||||
| 5 | F | c.3898C>T | p.Arg1300* | c.1804C>T | p.Arg602Trp | 20/200 20/200 | 7/17/10 |
| 8 | F | not detected | not detected | 20/400 20/400 | 32/44/12 | ||
| 11 | M | c.6079C>T | p.Leu2027Phe | not detected | FC1m 20/200 | 12/24/12 | |
| 12• | M | c.4328G>A | p.Leu541Pro | c.2743G>A | p.Asp915Asn | 20/200 20/200 | 8/13/5 |
| c.1622T>C | p.Arg1443His | ||||||
| 16 | M | c.4720G>T | p.Glu1574* | not detected | 20/150 20/200 | 6/38/32 | |
| 18 | M | c.634C>T | p.Arg212Cys | c.1804C>T | p.Arg602Trp | 20/400 20/400 | 6/31/25 |
| 19 | M | c.634C>T | p.Arg212Cys | c.1804C>T | p.Arg602Trp | FC1.5m FC1.5m | 11/26/15 |
| 21 | M | c.3386G>T | p.Arg1129Leu | not detected | 20/150 20/150 | 16/32/16 | |
| 22• | M | c.4926C>G | p.Ser1642Arg | c.4340A>T | p.Glu1447Val | 20/200 FC2m | 8/10/2 |
| c.5044_5058del15‡ | p.Val1682_Val1686del‡ | ||||||
| 29 | F | c.223T>G | p.Cys75Gly | c.6088C>T | p.Arg2030* | N/A N/A | 8/16/8 |
| 32 | M | c.455G>A | p.Arg152Gln | not detected | 20/30 FC10cm | 36/39/3 | |
| 46 | F | c.5461–10T>C | p.[Thr1821Valfs*13, Thr1821Aspfs*6] | c.1804C>T | p.Arg602Trp | 20/200 20/200 | 9/10/1 |
| 47• | F | c.1622T>C | p.Leu541Pro | c.286A>G | p.Asn96Asp | 20/400 20/400 | 7/26/19 |
| c.4328G>A | p.Arg1443His | ||||||
| 50• | M | c.1804C>T | p.Arg602Trp | c.5381C>A | p.Ala1794Asp | 20/400 20/400 | 15/31/16 |
| 26 | F | c.5714+5G>A | p.? | not detected | 20/80 20/80 | 9/14/5 | |