Table 2 of
Wang, Mol Vis 2015; 21:487-501. Table 2 of
Wang, Mol Vis 2015; 21:487-501.
Table 2. Clinical Data of 23 Male Patients from 16 Taiwanese Families with XLRS.
| Family | Case | Nucleotide change | Amino acid change | Age at Dx (y) | BCVA (OD; OS) | Macula abnormalities | Peripheral RS | Vitreous hemorrhage | Retinal detachment | ERG Scot. Max. b/a ratio |
|---|---|---|---|---|---|---|---|---|---|---|
| A † | II-1 | c.304 C>T | p.Arg102Trp | 58 | 20/200; 20/200 | Macular schisis | No | No | No | >1 |
| B† | II-1 | c.458 T>C # | p.Val153Ala | 18 | 20/60;20/60 | Macular schisis | Yes | Yes OD | No | >1 |
| C† | II-1 | c.335 G>C # | p.Trp112Ser | 23 | 20/200; 20/200 | Macula schisis OD RPE atrophy OS | Yes OD | No | No | <1 |
| D ‡ | II-1 | c.327_410del # | p.Cys110_Leu137del | 6 | HM; 20/50 | Macular schisis | Yes OU | Yes OU | Surgery for severe PVR OD | Not tested |
| E* | II-1 | c.488 G>A # | p.Trp163Ter | 6 | 20/60; 20/50 | Macular schisis | No | No | No | Not tested |
| F* | I-2 | c.531 T>G # | p.Tyr177Ter | 52 | 20/1000; 20/1000 | RPE atrophy | No | No | No | >1 |
| F* | II-1 | c.531 T>G # | p.Tyr177Ter | 42 | 20/200; 20/200 | Macular schisis | Yes OD | No | No | <1 |
| G* | I-1 | c.531 T>G # | p.Tyr177Ter | 72 | 20/200; 20/200 | RPE atrophy | No | No | No | Not tested |
| G* | III-2 | c.531 T>G # | p.Tyr177Ter | 18 | 20/40; 20/40 | Macular schisis | No | No | No | >1 |
| G* | III-3 | c.531 T>G # | p.Tyr177Ter | 17 | LP; 20/60 | Macular schisis OS | Yes OS | No | Phthisis after surgery for severe/PVR OD | <1 |
| G* | III-6 | c.531 T>G # | p.Tyr177Ter | 5 | NLP; 20/25 | Macular schisis OS | No | No | NVG and Coats’-like appearance OD | Not tested |
| H † | II-1 | c.214 G>A | p.Glu72Lys | 6 | 20/200; 20/400 | Macular schisis OD RPE atrophy OS | Yes OS | No | Subretinal fibrosis OS | Not tested |
| I† | II-1 | c.304 C>T | p.Arg102Trp | 5 | 20/1000; 20/2000 | Macular schisis | Yes | Yes | Exudation | Not tested |
| J† | II-2 | c.461 A>C # | p.Gln154Pro | 5 | Not tested | Macular schisis Hole OS | No | No | No | Not tested |
| J† | II-5 | c.461 A>C | p.Gln154Pro | 10 | 20/40; 20/30 | Macular schisis | No | No | No | Not tested |
| K † | II-1 | c.304 C>T | p.Arg102Trp | 22 | 20/200; 20/200 | Macular schisis Hole OS | No | No | No | <1 |
| L* | II-1 | c.488 G>A # | p.Trp163Ter | 11 | 20/60;20/60 | Macular schisis | No | No | No | >1, normal |
| M* | II-3 | c.531 T>G# | p.Tyr177Ter | 4 | LP; 20/300 | Macular schisis OS | No | No | Coats’-like appearance OD | Not tested |
| M* | II-1 | c.531 T>G # | p.Tyr177Ter | 7 | No LP; 20/300 | Macular schisis OS | Yes | Yes OS | Yes OS Phthisis OD | Not tested |
| N† | II-1 | c.626 G>A | p.Arg209His | 51 | 20/200; 20/60 | Macular schisis OD RPE atrophy OS | No | No | No | <1 |
| O* | II-1 | c.531 T>G # | p.Tyr177Ter | 30 | 20/30; 20/30 | Macular schisis | No | No | No | <1 |
| P* | II-1 | c.531 T>G # | p.Tyr177Ter | 41 | CF; 20/200 | Macular schisis OS | Yes | No | Yes | <1 |
| P* | II-2 | c.531 T>G # | p.Tyr177Ter | 31 | CF; 20/100 | Macular schisis OS | Yes | No | Surgery for severe PVR OD | Not tested |