Ocular findings in the patients in 11 families with two or more sibs with Bardet–Biedl syndrome
Family | I | II | III | IV | V | VI | VII | VIII | IX | X | XI | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBS locus | 4 | 4 | ||||||||||||||||||||
No of patients in the family | 2 | 2 | 2 | 2 | 2 | 2 | 3 | 2 | 2 | 3 | 3 | |||||||||||
Age range | 21–29 | 22–23 | 04–10 | 13–16 | 26–27 | 06–09 | 29–34 | 20–33 | 30–32 | 07–36 | 38–40 | |||||||||||
No of patients with features: | ||||||||||||||||||||||
Night blindness first sign | 2 | 0 | 2 | 1 | 2 | 0 | 1 | 1 | 2 | 0 | 0 | |||||||||||
Visual impairment first sign | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 | 3 | |||||||||||
Night blindness and visual impairness simultaneously | 0 | 2 | 0 | 1 | 0 | 0 | 1 | 1 | 0 | 1 | 0 | |||||||||||
Myopia | 0 | 2 | 0 | 2 | 0 | 0 | 3 | 1 | 2 | 1 | 1 | |||||||||||
Retinal bone spicules | 2 | 2 | 0 | 2 | 2 | 0 | 0 | 1 | 2 | 0 | 0 | |||||||||||
Cataract | 2 | 1 | 0 | 1 | 2 | 0 | 3 | 1 | 1 | 2 | 3 |