Autosomal recessive | | | | |
1 | F | 19 | Pigmentary retinal dystrophy | ABCA4 (AR) | ATP-binding cassette transporter—retina | c.4469G>A (p.C1490Y) | c.4469G>A (p.C1490Y) |
2* | F | 27 | Decreased vision | ABCA4 (AR) | ATP-binding cassette transporter—retina | c.1365+5_+6insC c.1927G>A (p.V643M) | c.3602T>G (p.L1201R) |
USH2A (AR) | Usherin | c.10858A>G (p.I3620V) | c.15377T>C (p.I5126T) |
3* | M | 11 | Bull's-eye maculopathy, cone dystrophy | ABCA4 (AR) | ATP-binding cassette transporter—retina | c.3385C>T (p.R1129C) | c.5461-10T>C |
USH2A (AR) | Usherin | c.10073G>A (p.C3358Y) | c.11026A>G (p.T3676A) c.14753C>T (p.T4918M) |
CA4 (AD) | Carbonic anhydrase IV | c.700G>A (V234I) | Neg |
4* | F | 14 | Rod-cone dystrophy | ABCA4 (AR) | ATP-binding cassette transporter—retinaChromosome 8 open reading frame 37 | c.2588G>C (p.G863A) | c.2828G>A (p.R943Q) |
C8orf37 (AR) | c.243+3A>C | c.243+3A>C |
5 | M | 39 | Cone dystrophy | ABCA4 (AR) | ATP-binding cassette transporter—retina | c.5196+1G>A | c.5882G>A (p.G196E) c.2828G>A (p.R943Q) |
6 | F | 1 mo | RP | ABCA4 (AR) | ATP-binding cassette transporter—retina | c.2828G>A (p.R943Q) | c.2588G>C (p.G863A) |
7* | F | 25 | RP | CEP290 (AR) | Centrosomal protein 290 | c.1078C>T (p.R360*) | c.6851_6855delCTGAT (p.T2284Nfs*10) |
AIPL1 (AR) | Arylhydrocarbon-interacting receptor protein-like 1 | c.140C>G (p.T47R) | c.937G>T (p.A313S) |
8 | F | 1 | Senior-Loken syndrome | CEP290 (AR) | Centrosomal protein 290 | c.2587-2A>G | c.2587-2A>G |
9 | F | 35 | RP, muscle weakness | CEP290 (AR) | Centrosomal protein 290 | c.297+1G>T | c.6401T>C (p.I2134T) |
10 | M | 26 | Decreased vision, field loss, night vision blindness | CERKL (AR) | Ceramide kinase-like protein | c.812T>C (p.I271T) | c.812T>C (p.I271T) |
11 | M | 20 | Progressive central and peripheral vision loss, abnormal constructed visual field | CERKL (AR) | Ceramide kinase-like protein | c.598A>T (p.K200*) | c.769C>T (p.R257*) |
12* | M | 35 | RP, loss of peripheral vision | CERKL (AR) | Ceramide kinase-like protein | c.1462G>A (p.E488*) | c.1462G>A (p.E488*) |
NR2E3 (AD, AR) | Nuclear receptor subfamily 2 group E3 | c.932G>A (p.R311Q) | Neg |
RP2 (XL) | RP2 protein | c.844C>T (p.R282W) | NA |
EYS (AR) | Eyes shut/spacemaker (Drosophila) homolog | c.1765A>G (p.R589G) | Neg |
13 | F | 48 | Decreased peripheral vision, photophobia, difficult light-to-dark adaptation, night blindness | EYS (AR) | Eyes shut/spacemaker (Drosophila) homolog | exon 14 del | exon 14 del |
14* | M | 18 | Bone spicule pigmentary clumping in fundus, VA = 20/20–25, peripheral field constriction | EYS (AR) | Eyes shut/spacemaker (Drosophila) homolog | c.5600C>T (p.S1867F) | c.8422G>A (p.A2808T) |
BEST (AD) | Bestrophin 1 | c.714+13C>T | Neg |
15 | M | 24 | Decreased peripheral vision, night blindness | EYS (AR) | Eyes shut/spacemaker (Drosophila) homolog | c.5681T>C (p.L1894P) | c.8779T>C (p.C2927R) |
16 | M | 31 | RP | FAM161A (AR) | Family with sequence similarity 161 member A | c.1309A>T (p.R437*) | c.1501delT(p.C501Vfs*4) |
17 | F | 77 | RP | MAK (AR) | Male germ cell-associated kinase | c.1297_1298 insAlu | c.1297_1298 insAlu |
18 | M | 76 | RP | MAK (AR) | Male germ cell-associated kinase | c.1297_1298 insAlu | c.1297_1298 insAlu |
19 | M | 68 | RP | MAK (AR) | Male germ cell-associated kinase | c.1297_1298 insAlu | c.1297_1298 insAlu |
20 | M | 18 | Pigmentary retinal dystrophy | MERTK (AR) | c-mer protooncogene receptor tyrosine kinase | c.62-1G>A | c.1296+1G>A |
21 | F | 20 | Hereditary retinal dystrophy, rod-cone dystrophy | MERTK (AR) | c-mer protooncogene receptor tyrosine kinase | c.1951C>T (p.R651*) | c.345C>G (p.C115W) |
22* | F | 45 | RP | MFRP (AR) | Membrane-type frizzled-related protein | c.772+2T>G | c.1124+1G>T |
CERKL (AR) | Ceramide kinase-like protein | c.769C>T (p.R257*) | Neg |
23 | M | 35 | RP | PDE6B (AR, AD) | Rod cGMP phosphodiesterase beta subunit | c.1833-1G>C | c.1833-1G>C |
24 | F | 21 | Nyctalopia, reduced peripheral vision | PDE6B (AR, AD) | Human homolog of yeast pre-mRNA splicing factor 6 phosphodiesterase beta subunit | c.869G>A (p.W290*) | c.1280G>A (p.W427*) |
25 | M | 35 | NA | PDE6G (AR) | Phosphodiesterase 6G cGMP-specific rod gamma | c.109C>T (p.Q37*) | c.109C>T (p.Q37*) |
26 | M | 9 | Usher syndrome type II | USH2A (AR) | Usherin | c.2299delG (p.E767Sfs*21) | c.4714C>T (p.L1572F) c.7595-3C>G |
27 | F | 39 | Nyctalopia, decreased peripheral vision, history of plaquenil | USH2A (AR) | Usherin | c.3395G>A (p.G1132D) | c.5624A>G (p.N1875S) |
28 | M | 17 | Usher syndrome | USH2A (AR) | Usherin | c.5776+1G>A | c.14131C>T (p.Q4711*) |
29* | M | 36 | Usher syndrome | USH2A (AR) | Usherin | c.1036A>C (p.N346H) c.2299delG (p.E767Sfs*21) | c.4714C>T (p.L1572F) |
NR2E3 (AD, AR) | Nuclear receptor subfamily 2 group E3 | c.767C>A (p.A256E) | Wild type |
RP1 (AD, AR) | RP1 protein | c.1118C>T (p.T373I) | Wild type |
RP2 (XL) | RP2 protein | c.844C>T (p.R282W) | NA |
30* | M | 37 | RP | USH2A (AR) | Usherin | c.2299delG (p.E767Sfs*21) | c.2276G>T (p.C759F) c.4714C>T (p.L1572F) |
RP | IMPDH1 (AD) | Inosine monophosphate dehydrogenase 1 | c.1057G>A (p.V353I) | Wild type |
31* | F | 32 | RP | MERTK (AR) | c-mer protooncogene receptor tyrosine kinase | c.2164C>T (p.R722*) | c.2219C>T (p.A740V) |
CA4 (AD) | Carbonic anhydrase IV | c.198_199delACinsG (p.L67Wfs*24) | Wild type |
32 | F | 51 | RP | ABCA4 (AR) | ATP-binding cassette transporter—retina | c.766G>T (p.V256L) | c.5755G>T (p.D1919Y) |
33 | F | 8 | Progressive pigmentary retinopathy | CEP290 (AR) | Centrosomal protein 290 | c.4834_4835delAC (p.T1612Sfs*13) | c.2980G>A (p.E994K) |
34 | M | 11 | Peripheral dystrophy | EYS (AR) | Eyes shut/spacemaker (Drosophila) homolog | c.3443+1G>T | c.2412G>C (p.Q804H) c.3250A>C (p.T1084P) c.4402G>C (p.D1468H) |
Autosomal dominant | | | | |
35 | F | 64 | Progressive pigmentary retinopathy | FSCN2 (AD) | Retinal fascin homolog 2, actin bundling protein | c.467C>T (p.P156L) | Wild type |
36* | M | 29 | RP | FSCN2 (AD) | Retinal fascin homolog 2, actin bundling protein | c.72delG (p.T25Qfs*120) | Wild type |
IMPDH1 (AD) | Inosine monophosphate dehydrogenase 1 | c.569G>T (p.R190L) | Wild type |
37 | F | 54 | RP | PDE6B (AR, AD) | Human homolog of yeast pre-mRNA splicing factor 6phosphodiesterase beta subunit | c.973G>C (p.E325Q) | Wild type |
38 | M | 7 | Rod dystrophy | PRPF8 (AD) | Human homolog of yeast pre-mRNA splicing factor C8 | c.6961C>T (p.Q2321*) | Wild type |
39 | M | 55 | RP | PRPH2 (AD) | Peripherin 2 | c.422A>G (p.Y141C) | Wild type |
40 | F | 70 | RP | RHO (AD) | Rhodopsin | c.936+1G>T | Wild type |
41* | F | 7 | RP, bone spicules, optic disc pallor, nyctalopia, | RHO (AD) | Rhodopsin | c.697-11G>A | Wild type |
RP, bone spicules, optic disc pallor, nyctalopia | PRPF6 (AD) | Human homolog of yeast pre-mRNA splicing factor 6 | c.867-7C>G | c.2431+9delG |
42 | M | 19 | RP | SNRNP200 (AD) | Small nuclear ribonucleoprotein 200 kDa | c.2359G>A (p.A787T) | Wild type |
43 | M | 11 | RP, likely AD inheritance | TOPORS (AD) | Topoisomerase I binding arginine/serine rich protein | c.74C>G(p.S25W) | Wild type |
44 | F | 22 | Nyctalopia, loss of peripheral vision, progressive pigmentary retinopathy | NR2E3 (AD, AR) | Nuclear receptor subfamily 2 group E3 | c.119-2A>C | c.119-2A>C |
45 | F | 14 | Retinal dystrophy | PDE6B (AR, AD) | Human homolog of yeast pre-mRNA splicing factor 6phosphodiesterase beta subunit | c.2193+1G>A | c.1624C>T (p.R542W) |
46* | M | 45 | Night blindness, visual field peripheral restriction, decreased vision, ERG consistent with RP | RP1 (AD, AR) | RP1 protein | c.4196delG (p.C1399Lfs*5)c.6353G>A (p.S2118N) | c.4196delG (p.C1399Lfs*5)c.6353G>A (p.S2118N) |
47 | M | 6 | Juvenile RP/LCA, nonrecordable electoretinogram, retinopathy | RP1 (AD, AR) | RP1 protein | c.796delinsTA(p.H266*) | c.1625C>G (p.S542*) |
48* | M | 41 | NA | RPE65 (AD, AR) | Retinal pigment epithelium-specific 65-kDa protein | c.1597T>A (p.S533T) | c.89T>C (p.V30A) |
AIPL1 (AR) | Arylhydrocarbon-interacting receptor protein-like 1 | c.905G>T (p.R302L) | Neg |
CNGA1 (AR) | Rod cGMP-gated channel alpha subunit | c.521T>A (p.L174*) | Neg |
49 | F | 54 | RP, macular subatrophy, pseudohole | RHO (AD) | Rhodopsin | c.562G>A (p.G188R) | Neg |
X-linked | | | | | |
50 | M | 5 | RP | RP2 (XL) | RP2 protein | c.358C>T (p.R120*) | NA |
51 | M | 15 | RP | RPGR (XL) | Retinitis pigmentosa GTPase regulator | c.1202_1206del5 (p.V401Afs*50) | NA |
52 | M | 18 | RP | RPGR (XL) | Retinitis pigmentosa GTPase regulator | c.92G>A (p.W31*) | NA |
53 | M | 44 | Rod-cone dystrophy | RPGR ORF15 (XL) | Retinitis pigmentosa GTPase regulator | c.3178_3179delAG (p.E1060Rfs*18) | NA |