Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations
Table 3
Clinical characterization of patients with novel mutations in this study (except EYS).
Patient
Gene
DNA variant
Protein variant
Diagnosis
Age of onset
Age at exam
VA_OD
VA_OU
RE_OD (diopter)
RE_OU (diopter)
Fundus
Visual field
1
ABCA4
c.2593_2594insT
p.Y865L fs*20
STGD
10
36
0.03
0.01
nc
nc
Macular degeneration
Peripheral islands
2
CRX
c.118C>T
p.R40W
CORD
65
70
0.15
0.2
+1.0
+0.75
Perimacular RPE atrophy
Central scotoma
3
PROM1
c.1738A>C
p.N580H
CD
37
37
1.2
0.3
−3.5
−3.0
Macular degeneration
Central scotoma
4
RDS/PRPH2
c.346G>T
p.A116S
RP
10
45
1.2
1.2
nc
nc
Perimacular AF
30°
5
c.44A>G
p.K15R
RP
na
na
LP
0.2
nc
−2.5
WSA
10°
6
c.460A>C
p.K154Q
RP
15
na
0.4
0.3
−8.5
−7.0
WSA, BS, NV
na
7
RHO
c.302G>A
p.G101E
RP
10
52
1.2
1.2
+1.0
+1.75
WSA, BS, NV
na
8
c.36delC
p.P12S fs*35
RP
62
74
0.8
0.9
nc
nc
WSA
30°
9
RP11
c.523delIC
p.Q175R fs*23
RP
16
48
0.6
0.02
+0.25
nc
WSA, BS, NV
10°
10
c.1140_114insTC
p.G381S fs*33
RP
18
58
0.5
0.5
+0.5
+1.5
WSA, BS, NV
10°
11
c.613_615delTAC
p.Y205*
RP
10
66
HM
LP
nc
nc
WSA, BS, NV
10°
RP11, c.613_615delTAC mutation was found in 6 patients of 2 families. PROM1, c.1738A>C mutation was found in other 2 RP patients with heterologous EYS and CRB1 alterations (see Table 7). Patient 6 had antirecoverin Ab. *Truncating and nonsense variants. VA: visual acuity. RE: refractive error. nc: not correctable. na: not available. LP: light perception. WSA: widespread RPE atrophy. BS: bone-spickle. NV: narrow vasculature. HM: hand motion.
