Ocular pathology of Lowe's syndrome in a female infant.
The ocular pathologic findings are presented in a case of a female infant with clinical and biochemical evidence of Lowe's syndrome. A small but increasing number of reports suggest that the mode of inheritance is not always sex-linked. The ocular histopathologic findings in the present case parallel those previously described for this syndrome. While the pathologic findings in other systems are variable, it is thought that the constellation of lens and anterior segment changes are sufficiently characteristic to identify cases of Lowe's syndrome.
D000867:Anterior Chamber / Q000473:pathology; D001921:Brain / Q000473:pathology; D002386:Cataract / Q000473:pathology; D002924:Ciliary Body / Q000473:pathology; D003560:Cysts / Q000473:pathology; D004848:Epithelium / Q000473:pathology; D005123:Eye / Q000473:pathology*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D007908:Lens, Crystalline / Q000473:pathology; D009800:Oculocerebrorenal Syndrome / Q000235:genetics / Q000473:pathology*; D015499:Renal Tubular Transport, Inborn Errors / Q000473:pathology*; D012730:Sex Chromosomes