Electroretinography as a Tool in Distinguishing Bardet-Biedl and Alström Syndromes in Early Childhood

Authors: 
Amy V Whittington, Scott R Lambert, William B Dasher, Arlene V Drack

Bardet-Biedl syndrome is an autosomal recessive condition that was first described in the 1920s. The cardinal features of the syndrome include obesity, polydactyly, hypogenitalism mental retardation, and a pigmentary retinopathy. Renal problems were later found to be associated with this syndrome. Several genotypes have recently been identified mapping to chromosomes 3 and 16q.

Journal: 
Update on Strabismus and Pediatric Ophthalmology Proceedings of the June, 1994 Joint ISA and AAPO&S Meeting, Vancouver, Canada
Publication Date: 
Dec 20 2024