Table 1 Clinical information of probands with homozygous TRPM1 deletion

From: A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

 

Affected individual

Gender

Age of diagnosis

CSNB

Myopia

Strabismus

Nystagmus

Family 1

1*

Male

3 years

Yes

Yes

Esophoria

No

 

2

Female

5 months

Yes

Yes

Esophoria

No

 

3

Male

5 months

Yes

Yes

Esophoria

No

Family 2

4*

Male

10 months

Yes

Yes

Mild

No

Family 3

5*

Female

18 months

Yes

Yes

Esophoria

No

Family 4

6*

Male

6 months

Yes

Yes

Exotropia

No

 

7

Male

Na

icCSNBa

Yes

Exotropia

No

 

8

Female

Na

Yes

Yes

Exotropia

No

 

9

Female

Na

Yes

Yes

Exotropia

No

Family 5

10*

Male

4 months

icCSNBa

Yes

Exotropia

No

 

11

Male

6–12 months

icCSNBa

Yes

Exotropia

No

 

12

Female

6–12 months

icCSNBa

Yes

Exotropia

No

 

13

Female

6–12 months

icCSNBa

Yes

Exotropia

No

Family 6

14*

Male

4 months

Yes

Yes

Esotropia

Yes

  1. *Proband
  2. aIncomplete Congenital Stationary Night Blindness
  3. Na Not available