Table 1. Clinical characteristics of BBS patients studied.
| Patient |
Retinitis pigmentosa |
Polydactyly | Obesity | Mental delay | Other | |||
|---|---|---|---|---|---|---|---|---|
| NB (onset) | Reduced visual acuity | Reduced visual field | Fundus and ERG | |||||
| M446 II.1 |
5 yo |
22 yo |
yes |
abolished |
- |
+/− |
- |
Dysmorphic facial features |
| M446 II.2 |
5 yo |
CF |
yes |
abolished |
+ (feet) |
+ |
- |
Hearing loss |
| M79 II.2 |
3 yo |
6 years (20°) |
ND |
abolished (at 12 yo) |
+ |
+ |
+ |
|
| B17 II.1 |
yes |
|
ND |
abolished |
+ (left hand) |
+ |
+ |
Renal insufficiency, arterial hypertension |
| M250 II.3 |
infancy |
20 yo |
ND |
ND |
+ (left foot) |
+ |
+ |
Hypogonadism |
| M250 II.6 |
15 yo |
20 yo |
ND |
ND |
+ |
+ |
+ |
Hypogonadism, photophobia, myopia |
| RP1011 II.1 |
9 yo |
9 yo |
1/8
1/10 |
Spicular pigment scotomae |
+ |
+ |
+/− |
Psychomotor delay, photophobia |
| M496 II.1 |
20 yo |
reduced |
yes |
ND |
+ |
- |
- |
Hirschprung disease |
| M523 II.1 |
yes |
reduced |
yes |
ND |
+ |
+ |
+ |
|
| M523 II.2 |
yes |
reduced |
yes |
ND |
- |
+ |
- |
|
| RP329 II.2 | yes | reduced | yes | ND | - | + | + | Photophobia, psychomotor and developmental delay |
NB: night blindness, CF: counting fingers, yo: years old, ERG: electroretinogram, +/−: mild feature, ND: not determined.