Table 1 of Pereiro, Mol Vis 2010; 16:137-143.


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