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Table 1 Clinical and common phenotypes associated with the aniridic probands

From: PAX6 gene variations associated with aniridia in south India

Proband

Age/ Sex

Best Vision

Refractive Error

Nystagmus

Keratopathy

Iris

Cataract

Glaucoma

Optic nerve Hypoplasia

Macular Hypoplasia

Glaucoma

                  

Medical treatment

Surgical treatment

  

RE

LE

RE

LE

 

RE

LE

 

RE

LE

RE

LE

RE

LE

RE

LE

RE

LE

RE

LE

28–1

17 yrs/F

6/24

6/24

+7.0

+7.0

NA

+

+

A

+

+

+

+

-

-

NA

NA

+

+

4,1

1,2

27–1

8 yrs/M

6/60

6/60

-1.0 -1.0 × 90

-1. 50

+

-

-

A

-

-

+

+

-

-

+

+

+

+

3

3

10–1

13 yrs/M

PL

HM

NI

NI

+

-

-

A

+

+

NA

+

-

-

NA

NA

-

+

5

-

21–1

2 mon/M

-

-

-

-

+

-

-

R

-

-

-

-

-

-

+

+

-

-

-

-

16–1

15 yrs/M

6/60

HM

NI

NI

+

+

+

R

+

+

+

+

-

-

+

+

+

+

-

-

18–1

30 yrs/M

PL

PL

NI

NI

+

+

+

R

+

+

+

+

-

-

NA

NA

+

+

-

-

  1. RE-Right Eye; LE-Left Eye; HM-Hand Movement; PL-Perception of Light; A-Absent; R-Remnant; NA-Not Available; NI-No Improvement; 1-Trabeculectomy; 2-Cyclocryocoagulation; 3-Awaiting cataract surgery; 4-Cataract surgery; 5-Surgery for Retinal detachment.