Lowe Syndrome, Oculocerebrorenal Syndrome

Written by Barbara Roque, MD

Lowe Syndrome

This is an x-linked disorder that presents with bilateral congenital cataracts and often with bilateral congenital glaucoma.  Infants show severe developmental delay, hypotonia, and renal failure with aminoaciduria.  The visual prognosis is poor since there is progression of neurological and renal deterioration.  Death occurs in late childhood.  A dilated slit lamp examination of the patient’s mother shows multiple punctate white snowflake opacities of the lens periphery.