Oculocerebrorenal Syndrome Follow-up
- Author: Deborah M Alcorn, MD; Chief Editor: Hampton Roy Sr, MD more...
Further Outpatient Care
- Patients should receive follow-up care as needed.
- Ophthalmology: Monitor vision, alignment, IOP, possible glaucoma, optic disc, and refraction. Amblyopia should be vigilantly watched for and treated accordingly.
- Renal: Monitor renal status. If disease is untreated, progressive renal failure may ensue.
- Orthopedic: Monitor and treat for joint swelling, arthritis, and tenosynovitis. Fractures are common. Rickets, osteopenia, and osteomalacia may occur.
- Neurology: Monitor for development, seizures, hypotonia.
- Physical therapy (motor development)
- Speech therapy
- Behavior modification, as needed
- Genetic counseling
Inpatient & Outpatient Medications
- Renal loss replacement (essential)
- Anticonvulsants, if necessary
Deterrence/Prevention
- Prenatal testing
- Chorionic villus sampling or amniocentesis
- Prenatal enzyme test for male fetuses (>99% sensitivity)
- DNA - Using linked markers in a family or direct detection of mutant alleles
Complications
- Ocular
- Blindness, if congenital cataracts are left untreated or if glaucoma (either primary or secondary) is uncontrolled
- Nystagmus
- Amblyopia
- Strabismus
- Renal: By the second or third decade, if disease is untreated, progressive renal failure may occur.
- Neurologic
- Mental deficiency
- Seizures
- Delayed motor development
- Orthopedics
- Fractures
- Joint swelling
- Tenosynovitis
- Rickets
- Osteomalacia
- Osteopenia
Prognosis
- Most patients with Lowe syndrome succumb to renal failure by the third decade; however, a patient's life expectancy has been extended with improved medical intervention. The exact expected lifespan with available aggressive medical treatment has not been delineated.
Patient Education
- Resources for Lowe syndrome are listed below.
- Lowe Syndrome Association
- 18919 Voss Road
- Dallas, TX 75287
- Phone: (972) 733-1338
- Internet: http://www.lowesyndrome.org
- March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, New York 10605
- Phone: (914) 997-4488
- Internet: http://www.marchofdimes.com
- NIH/National Human Genome Research Institute
- Building 31, Room 4B09
- 31 Center Drive, MSC 2152
- 9000 Rockville Pike
- Bethesda, MD 20892
- Phone: (301) 402-0911
- Internet: http://www.genome.gov
- The Arc (National Organization on Mental Retardation)
- 1660 L Street, NW, Suite 301
- Washington, DC 20036
- Phone: (202) 534-3700
- Internet: http://thearc.org/
- National Organization for Rare Diseases
- 55 Kenosia Avenue
- Box 1968
- Danbury, CT 06813
- Phone: (203) 744-0100
- Internet: http://www.rarediseases.org
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