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Table 1 Demographic characteristics of investigated families

From: USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families

Families residential district

Disease

No. of living individuals

No. of affected individuals

Age of onset

Male

Female

Male

Female

 

Peshawar

RP

5

5

2

2

Childhood (around 10 years )

Karak

USH2

5

4

2

3

Congenital deafness, night blindness before10 years of age, pre-pubertal onset of RP

Kohat

USH2

4

2

2

1

Congenital deafness, night blindness after10 years of age, Onset of RP in early adolescence

Waziristan

KC

5

3

3

0

Early adolescence

Hangu

KC

8

5

3

2

Middle adolescence