Functional visual explorations of Bardet-Biedl syndrome: a study of three cases

Citation
I. Ingster-moati et al., Functional visual explorations of Bardet-Biedl syndrome: a study of three cases, J FR OPHTAL, 23(8), 2000, pp. 802-808
Citations number
27
Categorie Soggetti
Optalmology
Journal title
JOURNAL FRANCAIS D OPHTALMOLOGIE
ISSN journal
01815512 → ACNP
Volume
23
Issue
8
Year of publication
2000
Pages
802 - 808
Database
ISI
SICI code
0181-5512(200010)23:8<802:FVEOBS>2.0.ZU;2-3
Abstract
Laurence-Moon syndrome, which is very rare, and Bardet-Biedl syndrome, whic h is more frequent are now well-recognized as two distinct entities in pedi atric neurology. Bardet-Biedi syndrome includes a number of common clinical signs it shares with Laurence-Moon syndrome but also with other syndromes, particularly Alstrome syndrome. These signs are retinitis pigmentosa, ment al retardation, obesity, and hypogonadism. Ophthalmological and electrophys iological 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 electroretinogr am amplitudes which do not infirm the diagnosis of Bardet-Biedl syndrome.