Table 2 Summary of 19 patients carrying pathogenic or likely pathogenic mutations in other retinal disease genes

High confidence

CIC01571

Ar

C2Orf71

NM_001029883.2

Ho

1

c.2950C>T

p.(R984*)

+

-

-

-

-

[36] (RP)

CIC00643

Ar

+

C2Orf71

NM_001029883.2

Ho

1

c.1949G>A

p.(W650*)

Np

-

-

-

-

Novel (rs371289954)

CIC03112

Ar

+

MERTK

NM_006343.2

Ho

17

c.2214del

p.(C738Wfs*32)

Np

-

-

-

-

[37] (RP)

CIC01242

Ar

MERTK

NM_006343.2

Ho

3_19

c.483-?_c.3000+?del

-

+

-

-

-

-

Novel

CIC06514

Ar

+

RLBP1

NM_000326.4

Ho

7_9

c.526-?_c.954+?del

-

Np

-

-

-

-

Novel

CIC03953

simplex

EYS

NM_001292009.1

Het

11

c.1673G>A

p.(W558*)

+

-

-

-

-

[23] (RP) (rs201823777)

EYS

NM_001292009.1

Het

14

c.2234A>G

p.(N745S)

+

Not

B

-

Poly

[23] (RP) (rs201652272)

CIC05012

simplex

NMNAT1

NM_022787.3

Het

5

c.619C>T

p.(R207W)

Np

Weakly

B

D

Dc

[41] (LCA) (rs142968179)

NMNAT1

NM_022787.3

Het

5

c.769G>A

p.(E257K)

Np

Moderately

B

T

Dc

[42] (LCA) (rs150726175)

CIC06499

simplex

NMNAT1

NM_022787.3

Het

5

c.619C>T

p.(R207W)

+

Weakly

B

D

Dc

[41] (LCA) (rs142968179)

NMNAT1

NM_022787.3

Het

5

c.769G>A

p.(E257K)

+

Moderately

B

T

Dc

[42] (LCA) (rs150726175)

CIC05394

Ar

+

RDH12

NM_152443.2

Ho

8

c.806_810del

p.(A269Gfs*2)

Np

-

-

-

-

[43] (LCA) (rs386834261)

CIC07241

Ar

+

RDH12

NM_152443.2

Ho

7

c.464C>T

p.(T155I)

Np

Highly

Pr

D

Dc

[44] (LCA) (rs121434337)

CIC07447

Ar

RDH12

NM_152443.2

Het

8

c.806_810del

p.(A269Gfs*2)

+

-

-

-

[43] (LCA) (rs386834261)

RDH12

NM_152443.2

Het

8

c.403A>G

p.(K135E)

+

Highly

Prd

T

Dc

Novel

CIC00953

simplex

IQCB1

NM_001023570.2

Het

6

c.424_425del

p.(F142Pfs*5)

+

-

-

-

-

[49] (Senior-Loken/LCA)

IQCB1

NM_001023570.2

Het

8

c.686del

p.(T229Mfs*8)

+

-

-

-

-

Novel

CIC01300

Ar

+

RP1

NM_006269.1

Ho

4

c.1719_1723del

p.(S574Cfs*7)

Np

-

-

-

-

[45] (arRP)

CIC05272

Ad

BEST1

NM_001139443.1

Het

4

c.76G>A

p.(V26M)

+

Highly

Prd

D

Dc

[50] (ADVIRC) (rs121918289)

CIC01380

Ar

+

CRB1

NM_201253.2

Ho

11

c.3994T>G

p.(C1332G)

+

Highly

Prd

D

Dc

Novel (LCA)

CIC00963

Ar

+

TULP1

NM_003322.4

Ho

11

c.1087G>A

p.(G363R)

+

Highly

Pd

D

Dc

Novel (LCA and arRP)

Lower confidence

CIC05007

Ad

ROM1

NM_000327.3

Het

1

c.339del

p.(L114Sfs*8)

+

-

-

-

-

Novel (adRP)

Most likely not pathogenic

CIC05379

simplex

FSCN2

NM_001077182.2

Het

1

c.574C>T

p.(R192C)

+

Highly

Prd

D

Dc

Novel (adRP and adMD but questionable) (rs377025075)

CIC05604

simplex

FSCN2

NM_001077182.2

Het

1

Partial deletion

-

Np

-

-

-

-

Novel (adRP and adMD but questionable)