Lowe Syndrome (Oculocerebrorenal Syndrome) Follow-up

Updated: Mar 21, 2017
  • Author: Deborah M Alcorn, MD; Chief Editor: Andrew G Lee, MD  more...
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Further Outpatient Care

Patients with Lowe syndrome, also called oculocerebrorenal syndrome (OCRS) and oculocerebrorenal syndrome of Lowe (OCRL) should receive follow-up care as needed, such as the following:

  • Ophthalmology: Monitor vision, alignment, IOP, possible glaucoma, optic disc, and refraction. Amblyopia should be vigilantly watched for and treated accordingly.
  • Renal: Monitor renal status. If disease is untreated, progressive renal failure may ensue.
  • Orthopedic: Monitor and treat for joint swelling, arthritis, and tenosynovitis. Fractures are common. Rickets, osteopenia, and osteomalacia may occur.
  • Neurology: Monitor for development, seizures, hypotonia.
  • Physical therapy (motor development)
  • Speech therapy
  • Behavior modification, as needed
  • Genetic counseling

Inpatient & Outpatient Medications

See the list below:

  • Renal loss replacement (essential)

  • Anticonvulsants, if necessary



Prenatal testing, as follows:

  • Chorionic villus sampling or amniocentesis

  • Prenatal enzyme test for male fetuses (>99% sensitivity)

  • DNA - Using linked markers in a family or direct detection of mutant alleles



Ocular, as follows:

  • Blindness, if congenital cataracts are left untreated or if glaucoma (either primary or secondary) is uncontrolled

  • Nystagmus

  • Amblyopia

  • Strabismus

Renal: By the second or third decade, if disease is untreated, progressive renal failure may occur.

Neurologic, as follows:

  • Mental deficiency

  • Seizures

  • Delayed motor development

Orthopedics, as follows:

  • Fractures

  • Joint swelling

  • Tenosynovitis

  • Rickets

  • Osteomalacia

  • Osteopenia



Most patients with Lowe syndrome succumb to renal failure by the third decade of life; however, a patient's life expectancy has been extended with improved medical intervention. The exact expected lifespan with available aggressive medical treatment has not been delineated.


Patient Education

Resources for Lowe syndrome are listed below.

  • Lowe Syndrome Association 18919 Voss Road Dallas, TX 75287 Phone: (972) 733-1338 Internet: http://www.lowesyndrome.org

  • March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, New York 10605 Phone: (914) 997-4488 Internet: http://www.marchofdimes.com

  • NIH/National Human Genome Research Institute Building 31, Room 4B09 31 Center Drive, MSC 2152 9000 Rockville Pike Bethesda, MD 20892 Phone: (301) 402-0911 Internet: http://www.genome.gov

  • The Arc (National Organization on Mental Retardation) 1660 L Street, NW, Suite 301 Washington, DC 20036 Phone: (202) 534-3700 Internet: http://thearc.org/

  • National Organization for Rare Diseases 55 Kenosia Avenue Box 1968 Danbury, CT 06813 Phone: (203) 744-0100 Internet: http://www.rarediseases.org