eMedicine Specialties > Ophthalmology > Metabolic Disorders

Oculocerebrorenal Syndrome: Follow-up

Author: 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
Contributor Information and Disclosures

Updated: Jun 2, 2006

Follow-up

Further Outpatient Care

  • 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

  • Renal loss replacement (essential)
  • Anticonvulsants, if necessary

Deterrence/Prevention

  • 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

Complications

  • 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

Prognosis

  • 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 current 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: (612) 869-LOWE
      Internet: http://www.lowesyndrome.org
      Email: info@lowesyndrome.org
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains, New York 10605
      Phone: (914) 428-7100
      Internet: http://www.marchofdimes.com
      Email: Askus@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.nhgri.nih.gov/
    • The Arc (National Organization on Mental Retardation)
      1010 Wayne Avenue, Suite 650
      Silver Spring, MD 20910
      Phone: (301) 565-3842
      Internet: http://thearc.org/
      Email: info@thearc.org
    • National Organization for Rare Diseases
      55 Kenosia Avenue
      Box 1968
      Danbury, CT 06813
      Phone: (203) 744-0100
      Internet: http://www.rarediseases.org
      Email: orphan@rarediseases.org

Miscellaneous

Medicolegal Pitfalls

  • Failure to make appropriate diagnosis
  • Failure to evaluate females at risk and to provide appropriate genetic counseling
  • Failure to monitor renal function and to treat appropriately, particularly within the first 2 years of life
  • Failure to remove cataracts (if dense and visually significant) in a timely fashion
  • Failure to monitor for glaucoma, amblyopia, and/or corneal keloids
  • Failure to maximize visual potential
 


More on Oculocerebrorenal Syndrome

Overview: Oculocerebrorenal Syndrome
Differential Diagnoses & Workup: Oculocerebrorenal Syndrome
Treatment & Medication: Oculocerebrorenal Syndrome
Follow-up: Oculocerebrorenal Syndrome
Multimedia: Oculocerebrorenal Syndrome
References
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References

  1. Attree O, Olivos IM, Okabe I. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature. Jul 16 1992;358(6383):239-42. [Medline].

  2. Cibis GW, Waeltermann JM, Whitcraft CT, et al. Lenticular opacities in carriers of Lowe''s syndrome. Ophthalmology. Aug 1986;93(8):1041-5. [Medline].

  3. Kenworthy L, Charnas L. Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe. Am J Med Genet. Nov 20 1995;59(3):283-90. [Medline].

  4. Kruger SJ, Wilson ME, Hutchinson AK. Cataracts and glaucoma in patients with oculocerebrorenal syndrome. Arch Ophthalmol. Sep 2003;121(9):1234-7. [Medline].

  5. Lavin CW, McKeown CA. The oculocerebrorenal syndrome of Lowe. Int Ophthalmol Clin. Spring 1993;33(2):179-91. [Medline].

  6. Lin T, Lewis RA, Nussbaum RL. Molecular confirmation of carriers for Lowe syndrome. Ophthalmology. Jan 1999;106(1):119-22. [Medline].

  7. Lowe CU, Terrey M, MacLachlan EA. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. Am J Dis Child. 1952;83:164-184.

  8. Nussbaum RL, Orrison BM, Janne PA, et al. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. Feb 1997;99(2):145-50. [Medline].

  9. Suchy SF, Nussbaum RL. The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. Am J Hum Genet. Dec 2002;71(6):1420-7. [Medline].

  10. Tripathi RC, Cibis GW, Tripathi BJ. Pathogenesis of cataracts in patients with Lowe''s syndrome. Ophthalmology. Aug 1986;93(8):1046-51. [Medline].

  11. Walton DS, Katsavounidou G, Lowe CU. Glaucoma with the oculocerebrorenal syndrome of Lowe. J Glaucoma. Jun 2005;14(3):181-5. [Medline].

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Further Reading

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Keywords

OCRS, Lowe syndrome, LS, cerebro-oculorenal dystrophy, oculocerebrorenal dystrophy, renal-oculocerebrodystrophy

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Contributor Information and Disclosures

Author

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, American Association for Pediatric Ophthalmology and Strabismus, and International Society for Genetic Eye Diseases and Retinoblastoma
Disclosure: Nothing to disclose.

Medical Editor

Andrew W Lawton, MD, Medical Director of Neuro-Ophthalmology Service, Section of Ophthalmology, Baptist Eye Center, Baptist Health Medical Center
Andrew W Lawton, MD is a member of the following medical societies: American Academy of Ophthalmology, Arkansas Medical Society, and Southern Medical Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

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.

CME Editor

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri
Disclosure: Nothing to disclose.

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, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.

 
 
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