Table 1 Clinical features of the patients examined.

From: Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies

Family

MA62

MA94

MA132

MA123

MA25

MA69

MA117

MA97

Individual

V−1

V−3

IV−3

IV−4

VI−4

IV−12

IV−2

IV−1

Age (Years)

NA

NA

18

23

NA

15

47

24

Age of onset

1st decade

Infancy

1st decade

2nd decade

Infancy

Infancy

2nd decade

1st decade

Legally blind

+

+

Photophobia

++

+++

++

+

+

Nystagmus

+

+++

++

+

++

Night blindness

+

+

+

Visual Acuity

LP

20/60

20/40

NA

20/40

20/200

20/80

NLP

ERG (Rod)

NA

Normal

Reduced

NA

NA

Normal

Reduced and delayed

Absent

ERG (Cone)

NA

Reduced

Normal

NA

NA

Reduced

Delayed

Low

  1. + and − symbols indicate presence/absence, as well as degree of a given feature (+ mild, ++ moderate, +++ severe). NA, not available; LP, light perception; NLP, no light perception.