oculocerebrorenal syndrome

oculocerebrorenal syndrome

a rare X-linked recessive disorder affecting male children and marked by renal-tubule dysfunction and eye disorders, including congenital glaucoma, cataracts, and distension of the eyeball because of fluid accumulation. The renal disorders include acidosis, hypophosphatemia, and excess amino acids in the urine. Many individuals with the syndrome have delayed development, and intellectual ability ranges from normal to severely impaired. Neurological deficits vary from absence of brain abnormalities to hydrocephalus and cerebral atrophy. Also called Lowe oculocerebrorenal syndrome; Lowe syndrome.