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Oculocerebrorenal Syndrome Follow-up

  • Author: Deborah M Alcorn, MD; Chief Editor: Hampton Roy, Sr, MD  more...
Updated: Dec 17, 2014

Further Outpatient Care

See the list below:

  • Patients should receive follow-up care as needed.
    • 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


See the list below:

  • Prenatal testing
    • 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


See the list below:

  • Ocular
    • 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
    • Mental deficiency
    • Seizures
    • Delayed motor development
  • Orthopedics
    • Fractures
    • Joint swelling
    • Tenosynovitis
    • Rickets
    • Osteomalacia
    • Osteopenia


See the list below:

  • Most patients with Lowe syndrome succumb to renal failure by the third decade; 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

See the list below:

  • Resources for Lowe syndrome are listed below.
    • Lowe Syndrome Association
    • 18919 Voss Road
    • Dallas, TX 75287
    • Phone: (972) 733-1338
    • Internet:
    • March of Dimes Birth Defects Foundation
    • 1275 Mamaroneck Avenue
    • White Plains, New York 10605
    • Phone: (914) 997-4488
    • Internet:
    • 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:
    • The Arc (National Organization on Mental Retardation)
    • 1660 L Street, NW, Suite 301
    • Washington, DC 20036
    • Phone: (202) 534-3700
    • Internet:
    • National Organization for Rare Diseases
    • 55 Kenosia Avenue
    • Box 1968
    • Danbury, CT 06813
    • Phone: (203) 744-0100
    • Internet:
Contributor Information and Disclosures

Deborah M Alcorn, MD Associate Professor, Departments of Ophthalmology and Pediatrics, Stanford University School of Medicine; Director of Pediatric Ophthalmology and Strabismus, Lucile Packard Children's Hospital

Deborah M Alcorn, MD is a member of the following medical societies: American Academy of Ophthalmology, International Society for Genetic Eye Diseases and Retinoblastoma, American Association for Pediatric Ophthalmology and Strabismus

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Hampton Roy, Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

Andrew W Lawton, MD Neuro-Ophthalmology, Ochsner Health Services

Andrew W Lawton, MD is a member of the following medical societies: American Academy of Ophthalmology, Arkansas Medical Society, Southern Medical Association

Disclosure: Nothing to disclose.


Brian R Younge, MD Professor of Ophthalmology, Mayo Clinic School of Medicine

Brian R Younge, MD is a member of the following medical societies: American Medical Association, American Ophthalmological Society, and North American Neuro-Ophthalmology Society

Disclosure: Nothing to disclose.

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Classic lenticular opacities in a female carrier for Lowe syndrome. Note the punctate cortical opacities in radical wedges. Image courtesy of Otis Paul, MD.
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