Table 2 of
Skorczyk, Mol Vis 2012; 18:3004-3012. Table 2 of
Skorczyk, Mol Vis 2012; 18:3004-3012.
Table 2. Clinical data and mutations identified in the patients with XLRS
| No | Mutation | Age of onset (yrs) | First symptom | Actual VA | Funduscopic macular abnormalities | OCT | ERG | Other ophthalmologic symptoms | Affected relatives |
|---|---|---|---|---|---|---|---|---|---|
| 1 | c.176G>C (p.Cys59Ser) | 1 | strabismus | RE: 0.1 LE: 0.2 | wheel-like cystic formation | typical for RS (intraretinal spaces, cysts) | - | RS of lower retina quadrants | none |
| 2 | c.176G>C (p.Cys59Ser) | 2 | vitreous hemorrhage | RE: 0.8 LE: 0.2 | wheel-like cystic formation | typical for RS | scotopic b-wave decreased | myopic astigmatism, peripheral RS | none |
| 3 | c.214G>A (p.Glu72Lys) | 1 | strabismus, reduced VA | RE: 0.1 LE: 0.3 | wheel-like cystic formation | typical for RS | scotopic b-wave decreased | - | maternal uncle |
| 4 | c.218C>A (p.Ser73*) | 7 | reduced VA | RE: 0.4 LE: 0.4 | wheel-like cystic formation | typical for RS | scotopic b-wave decreased | - | second cousin |
| 5 | c.218C>A (p.Ser73*) | 10 | reduced VA | RE: 0.3 LE: 0.4 | no macular reflex, pigment deposits | typical for RS | scotopic b-wave decreased | vitreal floaters | second cousin |
| 6 | c.218C>A (p.Ser73*) | 7 | reduced VA | RE: 0.8 LE: 0.2 | pigment deposits | typical for RS | scotopic b-wave decreased | hyperopic astigmatism | none |
| 7 | c.354–355delCA (p.Asp118Glufs*2) | 3 | reduced VA | RE: 0.1 LE: 0.1 | wheel-like cystic formation | typical for RS | - | initial Dg: CME | none |
| 8 | c.451T>A (p.Tyr151Asp) | 6 | reduced VA | RE: 0.5 LE: 0.6 | wheel-like cystic formation | typical for RS | scotopic b-wave decreased | initial Dg: CME; central scotoma | 2 affected relatives |
| 9 | c.522+1G>T | 11 | vitreous hemorrhage | RE: 1.0 LE: 0.6 | wheel-like cystic formation | typical for RS | nonspecific (hemorrhage) | vitreoretinal proliferation, floaters | none |
| 10 | c.626G>T (p.Arg209Leu) | 6 | reduced VA | RE: 0.4 LE: 0.1 | no macular reflex | typical for RS | scotopic b-wave decreased | RS of lower retina quadrants | 4 affected relatives |