Laurence-Moon-Bardet-Biedl syndrome: electrophysical and psychophysical findings.
Four cases of Laurence-Moon-Bardet-Biedl syndrome were studied through electrophysiological and psychophysical examinations, and findings were correlated with those of fluorescein angiography. In all cases the macula showed degenerative changes, including a bull's eye appearance. The fundus periphery could be devoid of clumps of pigmentation, but all cases showed profound functional abnormalities that affected the macula and the periphery, impairing both the cone and rod systems equally. Bull's eye macula associated with severe, diffuse functional abnormality of the macula and peripheral retina, along with obesity and mental retardation, help establish the diagnosis of Laurence-Moon-Bardet-Biedl syndrome.
D000293:Adolescent; D000328:Adult; D002648:Child; D004585:Electrooculography; D004594:Electrophysiology; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007849:Laurence-Moon Syndrome / Q000473:pathology / Q000503:physiopathology*; D008297:Male; D011601:Psychophysics