A male infant born four weeks prematurely was placed in oxygen for six weeks. Cataracts were noted. At 6 months of age the corneas were diffusely cloudy and tensions were 37 mm (Schiøtz). The pupils were tiny and unresponsive to mydriatic drugs. The infant was small and underweight. Muscular hypotony and hyporeflexia were evident. The long bones revealed rickets. Albuminuria, glycosuria, systemic metabolic acidosis and persistent alkaline urine were demonstrated. Goniotomy on each eye produced at least temporary benefit. Punctate lenticular opacities and monocular epicapsular stars were prominent in the immediate family on the maternal side.
Fisher NF, Hallett J, Carpenter G. Oculocerebrorenal Syndrome of Lowe: A Case Report. Arch Ophthalmol. 1967;77(5):642–645. doi:10.1001/archopht.1967.00980020644014
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