Table 1 Clinical features of patients from family CL.

From: A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypes

ID

Onset Ages (years)*

Age (years)/Sex

BCVA

Exotropia/Nystagmus

Fundus Appearance

Retinoschisis†

VF

O.D.

O.S.

ODC

CV

PTA

PC

CA

O.D.

O.S.

O.D.

O.S.

II:1

2

65/M

0.15

HM/10 cm

Yes/Yes

Pale

Yes

Yes

No

Yes

Yes

Yes

NA

NA

II:3

30

62/M

0.8

0.125

Yes/No

Pale

Yes

Yes

NA

Yes

Stage 1

Stage 3

EBS

DL

II:5

36

58/F

0.15

0.25

No/No

Pale

Yes

Yes

Yes

Yes

Yes

Yes

NA

NA

III:1

38

40/F

0.4

0.05

No/No

Pale

Yes

Yes

No

Yes

Stage 3

Stage 3

EBS

DL

III:4

10

36/F

NA

NA

No/No

Pale

Yes

Yes

Yes

No

Yes

Yes

NA

NA

III:5

10

32/M

0.05

1.0

No/No

Pale

Yes

Yes

Yes

No

Yes

Yes

NA

NA

III:8

20

35/F

0.6

0.5

No/No

Pale

Yes

Yes

No

No

Stage 2

Stage 1

EBS

EBS

III:11

2

29/F

0.04

0.25

Yes/Yes

Pale

Yes

Yes

No

Yes

Stage 1

Stage 3

DL

EBS

IV:2

2

21/M

0.2

0.1

Yes/Yes

Pale

Yes

Yes

No

Yes

Yes

Yes

NA

NA

IV:3

2

12/F

0.05

0.15

Yes/Yes

Pale

Yes

Yes

No

Yes

Stage 1

Stage 2

EBS

normal

IV:4

2

10/M

0.1

1.0

No/Yes

Pale

Yes

Yes

No

Yes

Stage 1

Stage 2

NA

NA

IV:5

2

5/M

0.8

0.02

Yes/Yes

Pale

Yes

Yes

No

Yes

Yes

Yes

NA

NA

  1. Abbreviations: F: female; M: male; BCVA: best corrected visual acuity; O.D.: right eye; O.S.: left eye; HM: hand moving; NA: not available; ODC: optic disk color; CV: cilioretinal vessels; PTA: peripapillay textural anomaly; PC: pigmental change; CA: choroidal atrophy; VF: visual field; EBS: enlarged blind spot; DL: difussed loss.
  2. *Onset ages of visiual impairment; †stages of retinoschisis was determined based on SD-OCT images.