Disease Disease
OMIM
Gene Gene
OMIM
Chromosomal
location

Retinal Disorders (Weber lab, phone: +49-941-944-5424)

Macular dystrophies        
Adult vitelliform macular dystrophy (AVMD) 608161 BEST1
PRPH2
607854
179605
11q12.3
6p21.1
Bestrophinopathy 611809 BEST1 607854 11q12.3
Doyne honeycomb retinal dystrophy/Familial drusen 126600 EFEMP1 601548 2p16.1
Fundus albipunctatus 136880 RDH5 601691 12q13.2
Macluar dystrophy with hypotrichosis 601553 CDH3 114021 16q22.1
Genepanel retina degeneration   17 Genes    
Best disease 153700 BEST1 607854 11q12.3
Stargardt disease 248200 ABCA4 601691 11p22.1
Pattern dystrophy 169150 PRPH2 179605 6p21.1
Sorsby fundus dystrophy 136900 TIMP3 188826 22q12.3
vitreoretinochoroidopathy (ADVIRC) 193220 BEST1 607854 11q12.3
Choroidal Dystrophy, central areolar 613105
PRPH2
GUCY2D
179605
600179
6p21.1
17p13.1
Vitelliform Maculadystrophy, autosomal-dominant und
autosomal-recessive
  IMPG1 602870 6q14.1
Generalized retinal dystrophy with macular or periphery onset        
Atrophia gyrata 258870 OAT 613349 10q26.13
Choroideremia 303100 CHM 300390 Xq21.2
Gene panel Leber congenital amaurosis   25 genes    
Retinitis pigmentosa, autosomal-dominant 615922
600138
608133
613731
180100
PRPF4
PRPF31
PRPH2
RHO
RP1
607795
606419
179605
180380
603937
9q32
19q13.42
6p21.1
3q22.1
8q12.1
Retinitis pigmentosa, X-chromosomal 312600
300029
RP2
RPGR incl. ORF 15
300757
312610
Xp11.23
Xp11.4
Gene panel Retinitis pigmentosa   78 genes    
Enhanced S-cone syndrome 610356 KCNV2 607604 9p24.2
Cone rod dystrophy 604116 ABCA4 601691 11p22.1
Gene panel cone dystrophy/cone-rod dystrophy   35 genes    
Other retinal diseases        
achromatopsia 216900
262300
613856
613093
CNGA3
CNGB3
GNAT2
PDE6C
600053
600053
139340
600827
2q11.2
8q21.3
1p13.3
10q23.33
Biettis crystalline dystrophy 210370 CYP4V2 608614 4q35.2
Familial exsudative vitreoretinopathy 133780
601813
305390
613310
FZD4
LRP5
NDP
TSPAN12
ZNF408
604579
603506
300658
613138
11q14.2
11q13.2
Xp11.3
7q31.3
119q13.41
Congenital stationary night blindness 610444
163500
610445
310500
GNAT1
PDE6B
RHO
NYX
139330
180072
180380
300278
3p21.3
14p16.3
3q22.1
Xp11.4
Norrie Syndrome 310600 NDP 300658 Xp11.3
Opticus atrophy 165500 OPA1 605290 3q29
Retinoschisis 312700 RS1 300839 Xp22.13
Usher Syndrome Typ IIA 276901 USH2A 608400 1q41