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 |
