ID

Initials

Age

Sex

Eye

BCVA

Genetics

1

AA

33

F

OS

0.4

c.5882G>A (p.Gly1961Glu); c.2382+1G>A

2

AN

39

F

OD

0.5

c.6320G>A (p.Arg2107His); c.3523-1G>A

3

ERA

26

F

OD

0.3

c.4139C>T (p.Pro1380Leu); c.4139C>T (p.Pro1380Leu)

4

FP

44

M

OS

1

NS - not screened

5

GS

59

M

OD

0.7

c.4139C>T (p.Pro1380Leu); c.5087G>A (p.Ser1696Asn)

6

HR

48

M

OS

0.3

c.318T>G (p.Y106*); c.2588G>C (p.Gly863Ala)

7

MC

24

F

OD

1

c.1622T>C (p.Leu541Pro)/c.3113C>T (p.Ala1038Val)

8

MCH

65

F

OD

1.3

c.4594G>A (p.Asp1532Asn); c.5882G>A (p.Gly1961Glu)

9

PS

28

F

OD

1.3

c.5882G>A (p.Gly1961Glu); IVS43+1G>T

10

SK

68

F

OD

0.6

c.5882G>A (p.Gly1961Glu); c.5882G>A (p.Gly1961Glu)

11

RE

47

M

OS

0.8

c.1622T>C (p.Leu541Pro)/c.3113C>T (p.Ala1038Val)

12

WR

34

F

OD

0.7

c.5882G>A (p.Gly1961Glu)

13

BJ

23

F

OS

1

c.4667+1G>A; c.5512C>A (p.His1838Asn)

14

BC

42

F

OD

0.7

c.2461T>A (p.Trp821Arg); c.5714+5G>A

15

CS

38

F

OS

1.1

c.634C>T (p.Arg212Cys); c.3056C>T (p.Thr1019Met)

16

DG

63

F

OS

0.1

c.1714C>T (p.Arg572*); c.4417C>A (p.Leu1473Met)

17

DC

28

F

OS

0.7

c.5882G>A (p.Gly1961Glu); c.3233G>A (p.Gly1078Glu)

18

FA

39

M

OD

1

c.2345G>A (p.Trp782*); c.6320G>A (p.Arg2107His)

19

GD

68

M

OD

0.9

c.4297G>A (p.Val1433Ile); c.4297G>A (p.Val1433Ile)

20

GPA

43

M

OD

0.1

c.3610G>A (p.Asp1204Asn); c.5527C>T (p.Arg1843Trp); c.6079C>T (p.Leu2027Phe)

21

MS

28

F

OD

0.7

c.3323G>A (p.Arg1108His); c.4297G>A (p.Val1433Ile)

22

NF

39

F

OD

0.7

c.634C>T (p.Arg212Cys); c.5087G>A (p.Ser1696Asn)

23

OA

29

F

OS

0.7

c.768G>T (p.Val256Val); c.5714+5G>A

24

PE

22

M

OD

1

c.4383G>A (p.Trp1461*); c.5929G>A (p.Gly1977Ser)

25

SG

64

F

OD

1.1

c.5882G>A (p.Gly1961Glu); c.571-2A>T

26

TM

33

M

OS

0.6

c.2461T>A (p.Trp821Arg); c.2461T>A (p.Trp821Arg)

27

TS

26

           F

         OS

1

c.6537del (p.Pro2180Leu fs*3)