Table 1 of
Salles, Mol Vis 2018; 24:546-559. Table 1 of
Salles, Mol Vis 2018; 24:546-559.
Table 1. Fundus autofluorescence type I 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 | |||
| 1• | F | c.4926C>G | p.Ser1642Arg | c.5882G>A | p.Gly1961Glu | 20/200 20/200 | 12/30/18 |
| c.5044_5058del15‡ | p.Val1682_Val1686del‡ | ||||||
| 9 | M | c.6112C>T | p.Arg2038Trp | c.6320G>A | p.Arg2107His | 20/200 20/150 | 11/35/24 |
| 14 | M | not detected | not detected | FC 2m 20/40 | 30/42/12 | ||
| 31• | M | c.1622T>C | p.Leu541Pro | c.3386G>T | p.Arg1129Leu | N/A N/A | N/A/23/ N/A |
| c.4328G>A | p.Arg1443His | ||||||
| 49• | M | c.5282C>G | p.Pro1761Arg | c.2345G>A | p.Trp782* | 20/400 20/400 | 15/25/10 |
| c.6316C>T | p.Arg2106Cys | ||||||
| 43• | F | c.5882G>A | p.Gly1961Glu | c.66G>T | p.Lys22Asn | 20/60 20/60 | 19/20/1 |
| 51• | M | c.1622T>C | p.Leu541Pro | c.5882G>A | p.Gly1961Glu | 20/30 20/30 | 10/11/1 |
| c.3113C>T | p.Ala1038Val | ||||||
| 28 | M | c.70C>T | p.Arg24Cys | c.1804C>T | p.Arg602Trp | 20/50 20/60 | 16/26/10 |
| 33§• | M | c.3862+1G>A† | p.? | c.3862+1G>A† | p.? | 20/200 20/200 | 10/10/0 |
| 35• | M | c.6079C>T | p.Leu2027Phe | c.6250G>C | p.Ala2084Pro | 20/25 20/25 | 20/20/0 |
| 48• | F | c.5882 G>A | p.Gly1961Glu | c.1364T>A | p.Leu455Gln | 20/60 20/150 | 32/32/0 |
| c.3113 C>T | p.Ala1038Val | ||||||
| 36• | F | c.1804C>T | p.Arg602Trp | not detected | 20/25 20/25 | 7/28/21 | |