Table 5 of
Ajmal, Mol Vis 2012; 18:1558-1571. Table 5 of
Ajmal, Mol Vis 2012; 18:1558-1571.
Table 5. RDH5 mutations causing fundus albipunctatus (cont.).
| Exon/intron | Mutations: Allele 1 | Mutations: Allele 2 | Phenotype | Families | Cases | Reference |
|---|---|---|---|---|---|---|
| Exon 3 | c.346_347insGCA (p.Gly116_Ile117insSer) | c.346_347insGCA (p.Gly116_Ile117insSer) | DWD, RPED | 1 | 1 | [48] |
| Exon 3, 4 | c.346G>C (p.Gly116Arg) | c.710A>C (p.Tyr237Ser) | NWD | 1 | 1 | [48] |
| Exon 3 | c.382G>A (p.Asp128Asn) | c.382G>A (p.Asp128Asn) | WD | 1 | 1 | [47] |
| Exon 3, 4 | c.382G>A (p.Asp128Asn) | c.712G>T (p.Gly238Trp) | WD | 1 | 1 | [438] |
| Exon 3, 5 | c.394G>A (p.Val132Met) | c.839G>A (p.Arg280His) | WD, CD, MD | 1, 1, 3 | 1, 2, 3 | [30,37,38,41] |
| Exon 3, 5 | c.416G>T (p.Gly139Val) | c.955T>C (p.*319Argext*33) | DWD, RPED | 1 | 1 | [48] |
| Exon 3 | c.470G>A (p.Arg157Gln) | c.470G>A (p.Arg157Gln) | DWD, RPED | 1 | 1 | [48] |
| Exon 3, 4 | c.470G>A (p.Arg157Gln) | c.712G>T (p.Gly238Trp) | WD | 1 | 1 | [45] |
| Exon 3 | c.490G>T (p.Val164Phe) | c.490G>T (p.Val164Phe) | WD, MA | 1 | 1 | [36] |
| Exon 3, 5 | c.530T>G (p.Val177Gly) | c.839G>A (p. Arg280His) | WD | 1 | 1 | [29] |
| Exon 3, 5 | c.530T>G (p.Val177Gly) | c.928_930delinsGAAGTT (p.Leu310delinsEV) | WF | 1 | 1 | [42] |
| Exon 4 | c.625C>T (p.Arg209*) | c.625C>T (p.Arg209*) | WD | 1 | 1 | [47] |
| Exon 4, 5 | c.689_690delinsGG (p.Pro230Arg) | c.928delinsGAAG (p.Leu310delinsEV) | WD | 1 | 1 | [44] |