eMedicine Specialties > Ophthalmology > Metabolic Disorders

Oculocerebrorenal Syndrome: Treatment & Medication

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

Treatment

Medical Care

  • Ocular
    • Patients must be monitored for glaucoma. If glaucoma develops, intraocular pressure–lowering agents must be used. Often, these patients require surgical intervention with goniotomy, trabeculotomy, or a drainage filtration device.
    • Management of the corneal keloids can be very challenging. Unfortunately, no single treatment modality has been found to be uniformly successful. Lubricants, topical steroids, cyclosporine, and antimetabolites have been tried and must be individualized for the patient. Lamellar keratectomy or corneal transplant may be challenging because of the intensive postoperative care required.
    • Visual development must be monitored, and amblyopia must be treated if detected. Refractions need to be updated as needed. Strabismus may develop, and surgical correction may be required.
  • Renal: Periodic monitoring for renal complications should begin at diagnosis and continue every 3-4 months until age 2 or 3 years. Appropriate treatment for renal tubular wasting should be undertaken. Alkalizing therapy to counter renal bicarbonate losses must be used. Phosphorus supplementation is indicated if bone resorption occurs. If plasma carnitine levels are low, oral supplementation may be required.
  • Neurologic: Seizures are treated according to type and precipitating factors.

Surgical Care

  • Ocular
    • It is imperative to surgically remove the congenital cataracts as soon as possible, ideally in the first 6 weeks of life, to optimize the visual potential. Mechanized vitrector instrumentation is essential. Complete removal of all lens material in conjunction with a primary posterior capsulotomy and an anterior vitrectomy will reduce the chances of a secondary membrane formation. Aphakic correction (eg, contact lenses, intraocular lenses, spectacles) must be initiated immediately following the surgery.
    • The patient must be monitored closely for possible glaucoma and treated appropriately. Generally, glaucoma in these children is controlled poorly by topical medications and requires surgery. Prior cataract surgery may superimpose a secondary aphakic component that may require glaucoma surgery other than goniotomy.

Consultations

The ophthalmologist must work in conjunction with the patient's primary care doctor, as well as a pediatric nephrologist, neurologist, and geneticist.

Diet

  • Fluids to replace urinary water losses (if evidence of impaired water-concentrating ability)
  • Phosphate supplementation
  • The efficacy of L-carnitine replacement currently is being studied.
  • Vitamin D as indicated
  • The efficacy of a low-protein diet is still being debated.

Activity

  • Speech, occupational, and/or physical therapy, as indicated by development
  • Behavioral modification as needed, especially for maladaptive behaviors

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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