Table 2: BBS patients and OB visual evaluation according to Braun, et al. [2].
BBS N = 20 | Age | Gender | Mutated gene | UPSIT | STOE | OB evaluation SR | OB evaluation SM |
1 | 27 | F | BBS10 | 3 | c | 0 | 1 |
2 | 39 | M | BBS12 | 3 | c | 1 | 1 |
3 | 22 | F | BBS12 | 3 | c | 2 | 2 |
4 | 25 | M | BBS10 | 3 | c | 1 | 1 |
5 | 18 | M | BBS3 | 1 | a | 2 | 2 |
6 | 36 | F | BBS17 | 2 | b | 1 | 1 |
7 | 22 | M | BBS1 | 1 | b | 0 | 1 |
8 | 38 | M | BBS1 | 2 | b | 2 | 2 |
9 | 37 | M | BBS10 | 3 | c | c | 2 |
10 | 39 | M | BBS5 | 1 | b | 1 | 1 |
11 | 24 | M | BBS5 | 2 | b | 1 | 1 |
12 | 20 | F | BBS10 | 2 | b | 2 | 2 |
13 | 27 | F | BBS1 | 1 | ND | 1 | 1 |
14 | 27 | M | BBS1 | 2 | b | 2 | 2 |
15 | 23 | M | BBS1 | 2 | b | 1 | 1 |
16 | 44 | F | BBS1 | 1 | ND | 2 | 2 |
17 | 24 | M | BBS1 | 1 | b | 1 | 1 |
18 | 17 | M | BBS1 | 3 | c | 2 | 2 |
19 | 26 | F | BBS4 | 3 | c | 1 | 2 |
20 | 27 | M | BBS9 | 3 | c | 2 | 2 |
M: male; F: female; ND: not done; BBS: Bardet Biedl syndrome; SR: radiologist SR; SM: radiologist SM.
UPSIT (according to R.L. Doty): 0: normosmia; 1: mild hyposmia; 2: severe hyposmia; 3: anosmia.
STOE (suprathreshold olfactory evaluation): a: normosmia; b: hyposmia; c: anosmia.
OB (olfactory bulb): 0: OB normal; 1: OB hypoplasia; 2: OB aplasia.