Table 1.
Genetic mutation sequence in the studied patients
| Patient No./Age, y | XLRS1 genetic mutation |
OD/OS VA logMAR |
OD/OS Color vision on Ishihara test plates |
Macular schisis* |
Peripheral schisis** |
|---|---|---|---|---|---|
| 1/50 | His626Arg exon 6 residue 209 |
0.34 | 19/21 OD | + | − |
| 2/39 | Trp96Arg exon 4 | 0.40 / 0.20 | 21/21 OU | − | − |
| 3/32 | Trp96Arg exon 4 | 0.80 / 0.88 | 21/21 OU | + | + |
| 4/24 | Arg141His exon 5 | 0.58 / 0.42 | 21/21 OU | + | + (OD only) |
| 5/20 | Deletion of splicing acceptor site IVS4del ttCtcgg |
1.30 / 0.90 | 9/21-19/21 | + | + (OD only) |
| 6/15 | Large deletion in exon 1 |
0.38 / 0.28 | 21/21 OU | + | − |
| 7/38 | Gly70 Ser exon 4 | 0.52 / 0.48 | 20/21-21/21 | + | − |
| 8/14 | G to T at nucleotide 88 in exon 3 lead to premature stop codon |
0.36 / 0.40 | 21/21 OU | + | − |
| 9/32 | Gly70Ser exon 4 | 0.70 / 0.64 | 21/21 OU | + | + |
| 10/12 | Arg141His exon 5 | 0.30 / 0.88 | 20/21-7/21 | + | − |
| 11/10 | Arg141His exon 5 | 0.44 / 0.26 | 21/21 OU | + | − |
| 12/15 | Arg3ins1cG exon 1 | 0.10 / 0.76 | 4/21 OU | + | − |
| 13/12 | Arg3ins1cG exon 1 | 0.40 / 0.40 | 21/21 OU | + | + (OD only) |
| 14/27 | 20bp insertion exon 4 codon 74 |
0.30 / 0.30 | 18/21 OU | − | − |
*
Diagnosed by OCT and fundus exam
**
Diagnosed by Indirect Ophthalmoscopy
‘+’, presence; ‘-’, absence