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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Follow-up

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
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Inpatient & Outpatient Medications

See the list below:

  • Renal loss replacement (essential)

  • Anticonvulsants, if necessary

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Deterrence/Prevention

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

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Complications

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

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Prognosis

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.

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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

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