Medscape is available in 5 Language Editions – Choose your Edition here.


Oculocerebrorenal Syndrome Treatment & Management

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

Medical Care

See the list below:

  • 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

See the list below:

  • 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.


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



See the list below:

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


See the list below:

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

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

  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].

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

  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].

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

  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].

Classic lenticular opacities in a female carrier for Lowe syndrome. Note the punctate cortical opacities in radical wedges. Image courtesy of Otis Paul, MD.
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.