Table 3 List of mutations reported in C8ORF37, OFD1 and TULP1 associated retinopathies

C8ORF37

c.155+2T>C

–

–

CRD

[56]

C8ORF37

c.156−2A>G

–

–

CRD

[15, 18]

C8ORF37

c.243+2T>C

–

–

RP

[21]

C8ORF37

c.244−2A>C

–

–

RP

[17]

C8ORF37

c.374+2T>C

–

–

EORD

[20]

C8ORF37

c.497>A

p.L166*

–

RP

[15, 18]

C8ORF37

c.529C>T

p.R177W

–

CRD, BBS

[15, 18, 19, 22]

C8ORF37

c.545A>G

p.Q182R

–

RP

[15, 18]

C8ORF37

c.555G>A

p.W185*

–

RP

[17], this study

C8ORF37

c.575delC

p.T192Mfs*28

–

EORD

[20]

OFD1

p.T120A

–

RP

This study

OFD1

IVS9+706A>G

p.N313fs*330

Coiled coil domain

RP

[13]

TULP1

c.3G>A

p.M1I

–

RP

[25]

TULP1

c.99+1G>A

–

–

LCA, RP

[23, 26]

TULP1

c.280G>T

p.D94Y

–

LCA

[27]

TULP1

c.286_287delGA

p.E96Gfs*77

–

RP

[57]

TULP1

c.350−2delAGA

–

–

RP

[28]

TULP1

c.394_417del

p.E120_D127del

–

RP

[29]

TULP1

c.539G>A

p.R180H

–

LCA

[30]

TULP1

c.627delC

p.S210Qfs*27

–

LCA

[31]

TULP1

c.629C>G

p.S210*

–

RP

[32]

TULP1

c.718+2T>C

–

–

LCA, RP

[33]

TULP1

c.725_728delCCAA

p.P242Qfs*16

–

LCA

[34]

TULP1

c.901C>T

p.Q301*

Tubby domain

LCA, CRD

[35, 36]

TULP1

c.937delC

p.Q301fs*9

Tubby domain

RP

[28]

TULP1

c.932G>A

p.R311Q

Tubby domain

RP

[37]

TULP1

c.956G>A

p.G319D

Tubby domain

RP

[38]

TULP1

c.961T>G

p.Y321D

Tubby domain

LCA

[34]

TULP1

c.999+5G>C

–

Tubby domain

LCA, RP

[33]

TULP1

c.1025G>A

p.R342Q

Tubby domain

RP

[37]

TULP1

c.1047T>G

p.N349K

Tubby domain

RP

[39]

TULP1

c.1064A>T

p.D355V

Tubby domain

LCA

[34]

TULP1

c.1087G>A

p.G363R

Tubby domain

CRD

[40]

TULP1

c.1081C>T

p.R361*

Tubby domain

LCA

[41]

TULP1

c.1102G>T

p.G368W

Tubby domain

LCA

[26]

TULP1

c.1112+2T>C

–

Tubby domain

RP

[42]

TULP1

c.1113–2A>C

–

Tubby domain

LCA

[34]

TULP1

c.1138A>G

p.T380A

Tubby domain

LCA, RP

[43, 45, 46]

TULP1

c.1145T>C

p.F382S

Tubby domain

RP

[47]

TULP1

c.1198C>T

p.R400W

Tubby domain

LCA, RP, CRD

[26, 48, 49]

TULP1

c.1199G>A

p.A400Q

Tubby domain

RP

[50]

TULP1

c.1204G>T

p.E402*

Tubby domain

LCA

[26]

TULP1

c.1224+4A>G

–

Tubby domain

RP

[29]

TULP1

c.1246C > T

p.R416C

Tubby domain

RP

[25]

TULP1

c.1255C>T

p.R419W

Tubby domain

RP

This study

TULP1

c.1258C>A

p.R420S

Tubby domain

RCD

[51]

TULP1

c.1259G>C

p.R420P

Tubby domain

RP

[23]

TULP1

c.1318C>T

p.R440*

Tubby domain

LCA

[31]

TULP1

c.1349G>A

p.W450*

Tubby domain

LCA

[27]

TULP1

c.1376T>A

p.I459K

Tubby domain

RP

[23, 24]

TULP1

c.1376T>C

p.I459T

Tubby domain

RP

[42]

TULP1

c.1376_1377delTA

p.I459Rfs*12

Tubby domain

LCA

[34]

TULP1

c.1381C>G

p.L461V

Tubby domain

LCA, RP

[33]

TULP1

c.1444C > T

p.R482W

Tubby domain

RP

[44, 48]

TULP1

c.1445G>A

p.A482Q

Tubby domain

RP

[46]

TULP1

c.1466A>G

p.K489R

Tubby domain

RP

[29, 43, 52, 57]

TULP1

c.1472T>C

p.F491L

Tubby domain

RP

[23]

TULP1

c.1495+1G>A

–

Tubby domain

RP

[24]

TULP1

c.1495+2_1495+3insT

–

Tubby domain

RP

[53]

TULP1

c.1495+4A>C

–

Tubby domain

RP

[57]

TULP1

c.1496−6C>A

–

Tubby domain

RP

[23, 29]

TULP1

c.1511_1521del

p.L504fs*140

Tubby domain

RP

[44]

TULP1

c.1518C>A

p.F506L

Tubby domain

LCA

[31]

TULP1

c.1561C>T

p.P521S

Tubby domain

RP

[57]

TULP1

c.1582_1587dup

p.F528_A529dup

Tubby domain

LCA, RP

[54]

TULP1

c.1604T>C

p.F535S

Tubby domain

LCA

[55]