Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome.
Three families with a total of five patients with Lowe's syndrome are described. We tried to trace female heterozygotes by ophthalmological abnormalities in order to realize prevention of this serious X-chromosomal recessive disease. Of the fourteen female relatives examined, eight showed pathological opacities of the lens, two of these being proven heterozygotes. In our opinion, in Lowe's syndrome, examination of the eyes can play an important role in the detection of heterozygotes.
D002386:Cataract / Q000209:etiology* / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D015499:Renal Tubular Transport, Inborn Errors / Q000150:complications*; D012729:Sex Chromosome Aberrations