Bardet-Biedl syndrome and retinitis punctata albescens in an isolated northern Canadian community.
Can J Ophthalmol
; 19(3): 115-8, 1984 Apr.
Article
in En
| MEDLINE
| ID: mdl-6733577
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Retinitis
/
Retinitis Pigmentosa
/
Laurence-Moon Syndrome
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
America do norte
Language:
En
Journal:
Can J Ophthalmol
Year:
1984
Type:
Article