[Functional visual explorations of Bardet-Biedl syndrome. A study of three cases].
Laurence-Moon syndrome, which is very rare, and Bardet-Biedl syndrome, which is more frequent are now well-recognized as two distinct entities in pediatric neurology. Bardet-Biedl syndrome includes a number of common clinical signs it shares with Laurence-Moon syndrome but also with other syndromes, particularly Alströme syndrome. These signs are retinitis pigmentosa, mental retardation, obesity, and hypogonadism. Ophthalmological and electrophysiological examinations are essential for confirmation and correct diagnosis of Bardet-Biedl syndrome. We present three case histories. Our third case illustrates the possibility of below normal yet discernable electroretinogram amplitudes which do not infirm the diagnosis of Bardet-Biedl syndrome.
Ingster-Moati
I
I
Service Central de Biophysique et de Médecine Nucléaire, Explorations fonctionnelles visuelles, Hôpital Lariboisière, 2, rue A. Paré, 75010 Paris.
Rigaudiere
F
F
Choltus-De Petigny
M C
MC
Bremond-Gignac
D
D
Lestrade
C
C
Grall
Y
Y
D020788:Bardet-Biedl Syndrome / Q000145:classification / Q000175:diagnosis* / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004596:Electroretinography; D005260:Female; D006801:Humans; D008297:Male; D014792:Visual Acuity