Pediatric eye-brain-renal syndrome

Eye-brain-renal syndrome (oculo-cerebro-renal syndrome or Lowe), also known as Lowe syndrome, is a rare recessive genetic disease. Clinically, it is characterized by congenital cataract, low intelligence, and renal tubular acidosis. It is more common in men, and defects are present at birth, but symptoms often appear in infancy or later. Eye, brain, and kidney lesions can also appear at different ages, making diagnosis difficult.