Oculocerebrorenal Syndrome: Multimedia

References

1. Attree O, Olivos IM, Okabe I. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature. Jul 16 1992;358(6383):239-42. [Medline].

2. Cibis GW, Waeltermann JM, Whitcraft CT, et al. Lenticular opacities in carriers of Lowe''s syndrome. Ophthalmology. Aug 1986;93(8):1041-5. [Medline].

3. Kenworthy L, Charnas L. Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe. Am J Med Genet. Nov 20 1995;59(3):283-90. [Medline].

4. Kruger SJ, Wilson ME, Hutchinson AK. Cataracts and glaucoma in patients with oculocerebrorenal syndrome. Arch Ophthalmol. Sep 2003;121(9):1234-7. [Medline].

5. Lavin CW, McKeown CA. The oculocerebrorenal syndrome of Lowe. Int Ophthalmol Clin. Spring 1993;33(2):179-91. [Medline].

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

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

8. Nussbaum RL, Orrison BM, Janne PA, et al. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. Feb 1997;99(2):145-50. [Medline].

9. Suchy SF, Nussbaum RL. The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. Am J Hum Genet. Dec 2002;71(6):1420-7. [Medline].

10. Tripathi RC, Cibis GW, Tripathi BJ. Pathogenesis of cataracts in patients with Lowe''s syndrome. Ophthalmology. Aug 1986;93(8):1046-51. [Medline].

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

Further Reading

Keywords

OCRS, Lowe syndrome, LS, cerebro-oculorenal dystrophy, oculocerebrorenal dystrophy, renal-oculocerebrodystrophy

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, American Association for Pediatric Ophthalmology and Strabismus, and International Society for Genetic Eye Diseases and Retinoblastoma
Disclosure: Nothing to disclose.

Medical Editor

Andrew W Lawton, MD, Medical Director of Neuro-Ophthalmology Service, Section of Ophthalmology, Baptist Eye Center, Baptist Health Medical Center
Andrew W Lawton, MD is a member of the following medical societies: American Academy of Ophthalmology, Arkansas Medical Society, and Southern Medical Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

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.

CME Editor

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri
Disclosure: Nothing to disclose.

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, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.