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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
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Inpatient & Outpatient Medications

See the list below:

  • Renal loss replacement (essential)
  • Anticonvulsants, if necessary
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Deterrence/Prevention

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
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Complications

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
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Prognosis

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.
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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: 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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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, 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.

Acknowledgements

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.

References
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  2. Loi M. Lowe syndrome. Orphanet J Rare Dis. 2006 May 18. 1:16. [Medline].

  3. Luo N, Kumar A, Conwell M, Weinreb RN, Anderson R, Sun Y. Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe. PLoS One. 2013. 8(6):e66727. [Medline]. [Full Text].

  4. Kim HK, Kim JH, Kim YM, Kim GH, Lee BH, Choi JH, et al. Lowe syndrome: a single center's experience in Korea. Korean J Pediatr. 2014 Mar. 57(3):140-8. [Medline]. [Full Text].

  5. Sugimoto K, Nishi H, Miyazawa T, Fujita S, Okada M, Takemura T. A novel OCRL1 mutation in a patient with the mild phenotype of lowe syndrome. Tohoku J Exp Med. 2014. 232(3):163-6. [Medline].

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  7. Topaloglu R, Ludwig M, Çelebi Tayfur A. Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe. Turk J Pediatr. 2013 May-Jun. 55(3):331-4. [Medline].

  8. Pirruccello M, De Camilli P. Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL. Trends Biochem Sci. 2012 Apr. 37(4):134-43. [Medline]. [Full Text].

  9. Kühbacher A, Dambournet D, Echard A, Cossart P, Pizarro-Cerdá J. Phosphatidylinositol 5-phosphatase oculocerebrorenal syndrome of Lowe protein (OCRL) controls actin dynamics during early steps of Listeria monocytogenes infection. J Biol Chem. 2012 Apr 13. 287(16):13128-36. [Medline]. [Full Text].

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

  11. Cibis GW, Waeltermann JM, Whitcraft CT, Tripathi RC, Harris DJ. Lenticular opacities in carriers of Lowe's syndrome. Ophthalmology. 1986 Aug. 93(8):1041-5. [Medline].

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

  13. Kruger SJ, Wilson ME Jr, Hutchinson AK, Peterseim MM, Bartholomew LR, Saunders RA. Cataracts and glaucoma in patients with oculocerebrorenal syndrome. Arch Ophthalmol. 2003 Sep. 121(9):1234-7. [Medline].

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

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  16. Nussbaum RL, Orrison BM, Janne PA, Charnas L, Chinault AC. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. 1997 Feb. 99(2):145-50. [Medline].

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

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

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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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