Lowe Syndrome (Oculocerebrorenal Syndrome) Treatment & Management

Updated: Mar 21, 2017
  • Author: Deborah M Alcorn, MD; Chief Editor: Andrew G Lee, MD  more...
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Treatment

Medical Care

Ocular

Patients with Lowe syndrome, also called oculocerebrorenal syndrome (OCRS) and oculocerebrorenal syndrome of Lowe (OCRL), 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. Clomipramine, paroxetine, and risperidone appear to show the most promise.

Hemostasis

Tranexamic acid has been documented to successfully treat platelet dysfunction. [6]

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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.

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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

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

Speech, occupational, and/or physical therapy, as indicated by development

Behavioral modification as needed, especially for maladaptive behaviors

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