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Table 1 Clinical features of 10 probands

From: Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy

ID

Sex

Diagnosis

Initial sympton

NYS

Age of onset (y)

Age at visit (y)

BCVA (decimal) OD/OS

ERG (scotopic/photopic)

VF

F1-III:4

M

RP, HM

Night blindness

N

39

46

0.4/0.6

NA

Constricted

F2-III:3

M

RP, MC

Night blindness. Central vision impairment

N

 < 1

27

0.1/0.1

Both severely reduced

NA

F3-III:5

F

RP

Night blindness

N

20

51

LP

NA

NA

F4-III:4

F

RP

Night blindness

N

20

60

HM/HM

Both severely reduced

NA

F5-III:1

M

RP

Night blindness

N

14

34

0.5/0.6

Both severely reduced

Constricted

F6-III:1

F

RP

Night blindness

N

6

23

0.8/0.6

Severely reduced/slightly reduced

Constricted

F7-III:4

M

CORD, POAG

Central vision impairment

N

40

45

CF at 1 m/0.02

Both severely reduced

Central scotoma

F8-III:5

F

CORD

Central vision impairment

N

32

43

CF at 40 cm/0.01

Both severely reduced, greater loss in cone

Central scotoma

F9-III:2

M

BCD

Night blindness

N

43

44

0.6/0.8

Severely reduced/slightly reduced

Constricted

F10-III:1

F

LCA

Vision impairment

Y

 < 1

29

HM/HM

Extinguished

NA

  1. NYS, Nystagmus; M, male; F, female; RP, retinitis pigmentosa; HM, high myopia; MC, coloboma-like lesions in macula; CORD, cone and rod dystrophy; POAG, primary open-angle glaucoma; BCD, Bietti crystalline dystrophy; BCVA, best corrected visual acuity; OD, right eye; OS, left eye; VF, visual field; ERGs, Electroretinograms; NA, not available