Lowe Syndrome (Oculocerebrorenal Syndrome) Differential Diagnoses

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

2. Loi M. Lowe syndrome. Orphanet J Rare Dis. 2006 May 18. 1:16. [Medline].

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].

6. Bökenkamp A, Ludwig M. The oculocerebrorenal syndrome of Lowe: an update. Pediatr Nephrol. 2016 Dec. 31 (12):2201-2212. [Medline].

7. Lewis RA, Nussbaum RL, Brewer ED. Lowe Syndrome. Pagon RA, Bird TD, Dolan CR, Stephens K, eds. SourceGene Reviews. Seattle: University of Washington; 2001. [Full Text].

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

9. Topaloglu R, Ludwig M, Çelebi Tayfur A. Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe. Turk J Pediatr. 2013 May-Jun. 55(3):331-4. [Medline].

10. Nandedkar MA, Minus H, Nandedkar MA. Eruptive vellus hair cysts in a patient with Lowe syndrome. Pediatr Dermatol. 2004 Jan-Feb. 21 (1):54-7. [Medline].

11. Erdogan F, Ismailogullari S, Soyuer I, Ferahbas A, Poyrazoglu H. Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe. J Child Neurol. 2007 Apr. 22 (4):427-31. [Medline].

12. Won JH, Lee MJ, Park JS, Chung H, Kim JK, Shim JS. Multiple epidermal cysts in lowe syndrome. Ann Dermatol. 2010 Nov. 22 (4):444-6. [Medline].

13. Pirruccello M, De Camilli P. Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL. Trends Biochem Sci. 2012 Apr. 37(4):134-43. [Medline]. [Full Text].

14. Kühbacher A, Dambournet D, Echard A, Cossart P, Pizarro-Cerdá J. Phosphatidylinositol 5-phosphatase oculocerebrorenal syndrome of Lowe protein (OCRL) controls actin dynamics during early steps of Listeria monocytogenes infection. J Biol Chem. 2012 Apr 13. 287(16):13128-36. [Medline]. [Full Text].

15. Gahl WA, Bernardini I, Dalakas M, Rizzo WB, Harper GS, Hoeg JM, et al. Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome. J Clin Invest. 1988 Feb. 81 (2):549-60. [Medline].

16. Allmendinger AM, Desai NS, Burke AT, Viswanadhan N, Prabhu S. Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe. J Radiol Case Rep. 2014 Oct 31. 8 (10):1-7. [Medline].

17. Mannino G, Abdolrahimzadeh B, Calafiore S, Anselmi G, Mannino C, Lambiase A. A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment. Clin Ophthalmol. 2016 Jul 29. 10:1453-9. [Medline].

18. Sener RN. Lowe syndrome: proton mr spectroscopy, and diffusion mr imaging. J Neuroradiol. 2004 Jun. 31 (3):238-40. [Medline].

19. Carvalho-Neto Ad, Ono SE, Cardoso Gde M, Santos ML, Celidonio I. Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life. Arq Neuropsiquiatr. 2009 Jun. 67 (2A):305-7. [Medline].

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

21. Cibis GW, Waeltermann JM, Whitcraft CT, Tripathi RC, Harris DJ. Lenticular opacities in carriers of Lowe's syndrome. Ophthalmology. 1986 Aug. 93(8):1041-5. [Medline].

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

23. Kruger SJ, Wilson ME Jr, Hutchinson AK, Peterseim MM, Bartholomew LR, Saunders RA. Cataracts and glaucoma in patients with oculocerebrorenal syndrome. Arch Ophthalmol. 2003 Sep. 121(9):1234-7. [Medline].

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

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

26. Nussbaum RL, Orrison BM, Janne PA, Charnas L, Chinault AC. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. 1997 Feb. 99(2):145-50. [Medline].

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

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

29. Hichri H, Rendu J, Monnier N, Coutton C, Dorseuil O, Poussou RV, et al. From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. Hum Mutat. 2011 Apr. 32 (4):379-88. [Medline].

30. Charnas LR, Gahl WA. The oculocerebrorenal syndrome of Lowe. Adv Pediatr. 1991. 38:75-107. [Medline].

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.

Shauna Berry, DO Pediatric Ophthalmology and Neuro-ophthalmology

Shauna Berry, DO is a member of the following medical societies: American Academy of Ophthalmology, American Osteopathic Association, American Osteopathic Colleges of Ophthalmology and Otolaryngology-Head and Neck Surgery, Florida Osteopathic Medical Association, Women in Ophthalmology, Inc

Disclosure: Nothing to disclose.

Ama Sadaka, MD Resident Physician, Department of Ophthalmology, University of Cincinnati Hospital

Ama Sadaka, MD is a member of the following medical societies: Alpha Omega Alpha

Disclosure: Nothing to disclose.

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.

Andrew G Lee, MD Chair, Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital; Clinical Professor, Associate Program Director, Department of Ophthalmology and Visual Sciences, University of Texas Medical Branch School of Medicine; Clinical Professor, Department of Surgery, Division of Head and Neck Surgery, University of Texas MD Anderson Cancer Center; Professor of Ophthalmology, Neurology, and Neurological Surgery, Weill Medical College of Cornell University; Clinical Associate Professor, University of Buffalo, State University of New York School of Medicine

Andrew G Lee, MD is a member of the following medical societies: American Academy of Ophthalmology, American Geriatrics Society, Houston Neurological Society, Houston Ophthalmological Society, International Council of Ophthalmology, North American Neuro-Ophthalmology Society, Texas Ophthalmological Association

Disclosure: Received ownership interest from Credential Protection for other.

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.

• Print this section
• Print the entire contents of
• Print the entire contents of article