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Table 1 Clinical characteristics of the seven patients in this Chinese Han family

From: A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus

Patients

Age, y

Gender

Eye

BCVA

IOP, mmHg

Keratopathy

Aniridia

Nystagmus

Crystalline lens

Glaucoma

I:2

96

F

OD

LP

13

+

+

+

Cataract, Dislocation

OS

LP

15

+

+

+

Cataract, Dislocation

II:2

68

M

OD

20/200

15

+

+

+

Absencea

OS

HM

17

+

+

+

Absence

II:4

64

F

OD

LP

16

+

+

+

Absence

+

OS

20/200

14

+

+

Absence

+

II:6

61

F

OD

20/160

13

+

+

Absence

OS

20/120

15

+

+

Absence

III:3

37

M

OD

HM

22

+

+

+

IOL

+

OS

HM

23

+

+

+

IOL

+

III:5

34

F

OD

20/120

15

+

+

+

IOL

OS

20/200

16

+

+

Cataract

IV:2

12

F

OD

20/80

13

+

+

Cataract

OS

20/100

11

+

+

Cataract

  1. M male, F female, OD the right eye, OS the left eye BCVA best corrected visual acuity; LP light perception, HM hand movement, IOP intraocular pressure, IOL Intraocular lens. All of the other family members have complete iris, without nystagmus or other major eye diseases, and thus are not listed in the table
  2. aAbsence means the patients had history of phacoemulsification