[Zonular juvenile cataract and cerebrotendinous xanthomatosis].
The present paper describes two cases, with the same type of zonular cataract associated with the rare disease of cerebrotendinous xanthomatosis. The disease is characterized by lipopexia in the Achilles' tendons, neurologic symptoms and low IQ. The mode of inheritance is autosomal recessive. The physiopathology and biochemistry of the disease are discussed with reference to recent publications.
Farpour
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D000125:Achilles Tendon / Q000002:abnormalities*; D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome; D014972:Xanthogranuloma, Juvenile / Q000235:genetics*
Cataracte zonulaire juvénile et xanthomatose cérébro-tendineuse.