Oculocerebrorenal Syndrome

Oculocerebrorenal syndrome or Lowe syndrome is a rare congenital disorder which almost exclusively affects males; it generally targets the eyes, brain, and kidneys. The symptoms include congenital cataracts, infantile glaucoma, delayed development, intellectual disability, seizures, weak muscle tone, behavioral problems, increased urination, dehydration, and other problems concerning renal abnormalities. This develops mostly in men because it is an X-linked recessive condition. The treatments include medication for glaucoma control, nasogastric tube feeding, physical therapy, and potassium citrate. This was first described by Charles Upton Lowe, an American pediatrician in 1952.