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Oculocerebrorenal Syndrome Workup

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

Laboratory Studies

See the list below:

  • Serum
    • Elevated serum enzyme levels
    • Enzyme test (phosphatidylinositol-4,5-bisphosphate phosphatase; >99% sensitivity) in males who are affected
    • Mild elevations of aspartate aminotransferase (AST), lactate dehydrogenase (LDH), and creatine phosphokinase (CPK)
    • Increased serum glutamic-oxaloacetic transaminase (SGOT) and lactate dehydrogenase (LDH)
    • Serum protein electrophoresis shows a markedly elevated alpha-2-band, and total serum protein concentration is elevated frequently in patients older than 4 years.
    • Acid phosphatase is elevated in most patients.
    • Increased alkaline phosphatase
    • Increased creatinine
    • Hypokalemia
  • Urinalysis
    • Check for reducing substances
    • Low urine osmolality and elevated 24-hour volumes
    • Proteinuria
    • Aminoaciduria
    • Hyperphosphaturia, frequently present, but may be variable
    • Calciuria
    • Check urine ph
    • Check L-carnitine (may be lost in urine)
  • Blood gas - Metabolic acidosis secondary to urinary loss of bicarbonate

Imaging Studies

See the list below:

  • Ocular ultrasound: B-scan is indicated if posterior pole cannot be visualized secondary to the cataract.
  • Cranial MRI: Mild ventriculomegaly is evident in about one third of patients. Additionally, in a periventricular and centrum semiovale distribution, increased signal intensity may occur on T2-weighted scans. These areas correspond to cysts of variable size and number and are yet of no known clinical significance.

Other Tests

See the list below:

  • Ocular evaluation to assess possible carrier status. Slit lamp examination of the biological mother's lenses or females at risk to assess if any lenticular opacities
  • DNA testing
    • DNA carrier testing for familial mutation (requires prior identification of unique mutation of OCRL1 gene in that family)
    • OCRL1 gene mutation analysis (approximately 90% sensitivity for males who are affected)

Histologic Findings

Renal histology usually is normal in utero and in neonates. However, within the first few months of life, these infants may show tubular abnormalities with dilation, atrophy, and accumulation of proteinaceous material in the tubular lumens. Young infants usually have normal glomeruli, but, after a few years, they may manifest glomerular lesions with sclerosis, focal fibrosis, and thickening of basement membranes.

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.

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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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