Pathological features of the eye in the oculocerebrorenal (Lowe) syndrome.
We studied the eyes of a 13-year-old boy with Lowe syndrome and updated the microscopic ocular findings. These are interpreted as a mesoectodermal dysgenesis involving the anterior and posterior segment. The eye exhibits a greater variety of morphologic change than any other organ in Lowe syndrome. The microscopic findings, particularly in the lens, are highly suggestive of this disorder. The pathogenesis of the ocular and extraocular lesions in Lowe syndrome in unknown. Most of the ocular abnormalities are probably determined in the first two months of gestation and there is no apparent embryologic relation to extraocular abnormalities. Some manifestations of Lowe syndrome may be secondary to accumulation of polyamines, a class of compounds that includes cytotoxic byproducts of faulty dibasic amino acid metabolism.
D000293:Adolescent; D000867:Anterior Chamber / Q000473:pathology; D002924:Ciliary Body / Q000473:pathology; D003315:Cornea / Q000473:pathology; D005123:Eye / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000473:pathology; D007908:Lens, Crystalline / Q000473:pathology; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000473:pathology*; D011247:Pregnancy; D015499:Renal Tubular Transport, Inborn Errors / Q000473:pathology*; D012160:Retina / Q000473:pathology; D012590:Sclera / Q000473:pathology; D014822:Vitreous Body / Q000473:pathology