title: Bardet-Biedl syndrome and retinitis punctata albescens in an isolated northern Canadian community.
abstract: Autosomal recessive inheritance of various conditions is well documented among inbreeding groups. In northern Canada inbreeding occurs in communities as a result of language and cultural uniqueness as well as geographic isolation. In one such community--Rae, in the Northwest Territories--two autosomal recessive disorders, the Bardet-Biedl syndrome and retinitis punctata albescens, are segregating. This report outlines the major clinical features of the disorders, establishes for both conditions the high frequency of the heterozygous carrier genotype in the community and suggests a possible way to reduce the likelihood of increased numbers of affected individuals in forthcoming generations.
mesh_terms: D000293:Adolescent; D000328:Adult; D002170:Canada; D002648:Child; D003241:Consanguinity; D005260:Female; D006801:Humans; D007198:Indians, North American; D007849:Laurence-Moon Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012173:Retinitis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*