Table 1 of Ehrenberg, Mol Vis 2019; 25:691-702.


Table 1. Patients with IRD and additional diagnoses included in this study.

Family Patient #
(Gender) Consanguinity Suspected diagnosis (inheritance mode) Actual diagnosis
(inheritance mode) First molecular finding Second molecular finding Third molecular finding Reference
1 1
(F) Yes USH (AR) RP (AR) + HL (AR) FAM161A (NM_001201543; OMIM: 613596):
c.1355_1356del; p.Thr452Serfs*3 (hom)
(RP) TMC1 (NM_138691; OMIM: 606706):
c.1939T>C; p.Ser647Pro (hom)
(HL) NA Current study
2 1
(F) No Syndromic RP (?) RP (AR) + hemifacial microsomia (AD) RDH12 (NM_152443; OMIM: 608830):
c.164C>T; p.Thr55Met (het)
c.295C>A; p.Leu99Ile (het)
(RP) OTX2 (NM_021728.3; OMIM: 600037): duplication 
Arr[hg19]14q22.3 (57269186_57925544)dup (het)
(hemifacial microsomia) NA Current study
3 1
(F) No FMF (AR) and RP (?) RP (AR)+ FMF (AR) FAM161A (NM_001201543; OMIM: 613596):
c.1567C>T; p.Arg523* (hom)
(RP) MEFV (NM_000243.2; OMIM: 608107):
c.2080A>G; p.Met694Val (hom)
(FMF) NA Current study
4 1
(M) No Syndromic RP (?) RP (XL) + DI (XL) + HL (AR) RPGR (NM_001034853.1; OMIM: 312610):
c.2272G>T; p.Glu758* (hemi)
(RP) AVPR2 (NM_000054.5; OMIM: 300538):
c.672C>A; p.Cys224* (hemi)
(DI) STRC (NM_153700.2; OMIM: 606440) – CATSPER2 (NM_172095.3; OMIM: 607249) del (hom)
(HL) Current study
5 1
(M) Yes Syndromic RP (?) RP (?) + HL (AD?) + cholestatic liver disease (AR) TJP2 (NM_004817; OMIM: 607709):
c.2353C>T; p.Glu785* (hom)
(cholestatic liver disease and HL) ?
(RP) NA Current study
6 1
(M) Yes CGD and RP (XL) (AKA 
contiguous gene deletion 
syndrome, McLeod phenotype) RP (?) + CGD (AR) NCF2 (NM_001127651.2; OMIM: 608515):
c.196C>T; p.Arg66* (hom)
(CGD) ?
(RP) NA Current study
7 2
(M) Yes ARB (AR) + ichtiosis (AR) ARB (AR) + ichtiosis (AR) BEST1 (NM_004183.3; OMIM: 607854):
c.74G>A; p.Arg25Gln (hom)
(ARB) ?
(ichtiosis) NA Current study
8 2
(M) No RP (AR) + ID (?) RP (AR) + ID (?) ABCA4 (NM_000350.2; OMIM: 601691):
c.5882G>A; p.Gly1961Glu (hom)
(RP) ?
(ID) NA Current study
9 1
(F) No USH (AR) RP (AD) + HL (?) PRPF31 (NM_015629; OMIM: 606419):
c.1108G>T; p.Glu370* (het)
(RP) ?
(HL) NA Current study
10 1
(M) No Danon Disease (XL) CRD (AR) + ID (?) + bradycardia (?) ABCA4 (NM_000350.2; OMIM: 601691):
c.G3482G>A; p.Arg1161His (hom)
(CRD) ? 
(ID) ?
(bradycardia) Current study
11 1
(F) Yes Ciliopathy (AR) Juvenile RP (AR) + PCD (?) GUCY2D (NM_000180; OMIM: 600179):
c.389del; p.Pro130Leufs*36 (hom) 
(juvenile RP) ?
(PCD) NA Current study
12 1
(M) No CSNB (XL) + single kidney (?) + amelogenesis imperfect (?) CSNB (XL) + single kidney (?) + amelogenesis imperfect (?) CACNA1F (NM_005183; OMIM: 300110):
c.4294-9G>A (IVS36-9G>A)
(CSNB) ?
(single kidney) ?
(amelogenesis imperfect) Current study
13 1
(F) Yes USH (AR) USH (AR)+ RP (AR) MYO7A (NM_000620; OMIM: 276903):
c.2308delC; p.Asn769fsX4 (hom)
(USH) PDE6B (NM_000283; OMIM: 180072):
c.1417delC; p.Leu473fsX16 (hom)
(RP) NA [24]
14 and 15 1 and 1 No ESCS (AR) + Early-onset OPMD (AD) ESCS (AR) + Early-onset OPMD (AD) NRL (NM_006177.3; OMIM: 162080):
c.91C>T; p.Arg31* (hom)
(ESCS) PABPN1 (NM_004643; OMIM: 602279):
(GCN)13 (hom)
(OPMD) NA [25]