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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.
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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.
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Consultations

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

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Diet

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.
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Activity

See the list below:

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