Table 1 Aggregated features of the cohort

From: A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort

Category

Number

Percentage

Sex

 Female

115

54%

 Male

98

46%

Geographical origin of IRD families

 Khyber Pakhtunkhwa

156

73%

 Sindh

29

14%

 Punjab

28

13%

Mode of Inheritance

 Autosomal recessive

164

77.0% (95.9%)

 Autosomal dominant

3

1.4% (1.8%)

 X-linked

4

1.9% (2.3%)

 Molecularly undiagnosed

42

19.7%

Total

213

100%

  1. Numbers in parentheses indicate percentages relative to diagnosed cases only.