Table 2 Conclusive results in 9 (56%) of 16 patients

5

64

M

CRB1/c.1436 T > C Leu479Pro Homozygous+

CNGA1/c.1315G > A Val439Met (heterozygous)

FSCN2/c.229G > A Val77Met (heterozygous)

PHYH/c.734G/A Arg245Gln (homozygous)

Probably positive (ARRP)

9

27

F

ROM1/c.671C > T Pro224Leu Heterozygous+

ABCA4/c.3759G > A p. Thr1253Thr (heterozygous)

CEP290/c.1298A > G p. Asp433Gly (heterozygous)

GRM6/c.1791C > T Ille597Ille (heterozygous)

OPA3/c.135G > A p. Pro45Pro (heterozygous)

OTX2/c.126C > A p. Thr42Thr (heterozygous)

PITPNM3/c.1671C > T p. Tyr557Tyr (heterozygous)

PRPF8/c.708G > A p. Ser236Ser (heterozygous)

Probably positive (ADRP)

12

35

F

PDE6B/c.3G > T p. Met1Ile, and c.313G > A p. Glu105Lys Heterozygous+

ABCA4 c.1029T > C p. Asn343Asn (heterozygous)

CDHR1 c.1849G > A p. Ala617Thr (heterozygous)

USH2A c.12823T > A p. Ser4275Thr (heterozygous)

ZNF513 c.96G > C p. Leu32Leu (heterozygous)

Probably positive (ARRP)

15

53

M

SNRNP200/c.2359G > A p. Ala787Thr Heterozygous+

CNGA3 c.943G > A p. Asp315Asn (heterozygous)

GRM5 c.1732C > T p. Arg578Cys (heterozygous)

MERTK c.61 + 3G > C (heterozygous)

PCDH15 c.2596G > A p. Val866Met (heterozygous)

SEMA4A c.405T > C p. Asn135Asn (heterozygous)

Probably positive (ADRP)

16

39

M

PRPF31/c.906_907insGCCAAGTGCACACTGGCAGCC Heterozygous+

BBS12 c.116T > C p. Ile39Thr (heterozygous)

CDH23 c.7722C > T p. Tyr2574Tyr (heterozygous)

RP1L1 c.4620G > C p. Glu1540Asp (heterozygous)

USH2A c.2276G > T p. Cys759Phe (heterozygous)

Probably positive (ADRP)

6

39

M

RPGR/c.905G > C p. Cys302Ser Hemizygous+

CRB1/c.614T > C p. Ile205Thr (heterozygous)

CYP4V2/c.40C > G p. Leu14Val (heterozygous)

PRPF8/c.4707G > A p. Leu1569Leu (homozygous)

RD3/c.560C > A p. Pro187His (heterozygous)

RPGRIP1/c.3402_3404delGTC (heterozygous)

Positive (XLRP)

8

40

M

RPGR/c.1243_1244delAG Hemizygous+

BBS12/c.355G > A p. Gly119Ser (heterozygous)

CDH23/c.6852G > C p. Leu2284Leu (heterozygous)

USH1C/c.566G > A p. Arg189Gln (heterozygous)

Positive (XLRP)

10

37

F

RHO/c.568G > A p. Asp190Asn Heterozygous+

CNGB1/c.2681G > A p. Arg894His (heterozygous)

CRB1/c.614T > C p. Ile205Thr (heterozygous)

GPR179/c.4597G > A p. Glu1533Lys (heterozygous)

GUCY2D/c.2765A > G p. Tyr922Cys (heterozygous)

Positive (ADRP)

14

54

M

NR2E3 c.166G > A p. Gly56Arg Heterozygous+

ALMS1 c.5294A > G p. Asn1765Ser (heterozygous)

CACNA1F c.5050G > T p.Gly1684Trp (hemizygous)

CDH23 c.6713-8G > A (heterozygous)

CDH23 c.10026C > T p. Asp3342Asp (heterozygous)

CEP290 c.1716A > G p. Leu572Leu (heterozygous)

CEP290 c.1558T > C p. Phe520Leu (heterozygous)

CNGB1 c.165C > T p. Pro55Pro (heterozygous)

FAM161A c.1851 + 22G > A (heterozygous)

FSCN2 c.576C > T p. Arg192Arg (heterozygous)

LCA5 c.1323C > T p. Tyr441Tyr (heterozgous)

RBP3 c.3546C > T p. His1182His (heterozygous)

USH2A c.14226G > A p. Thr4742Thr (heterozygous)

Positive (ADRP)