O OftalmopediaAn open ophthalmology reference ⌕

Oculocerebrorenal syndrome

AI overview

Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria.

Key points
  • It is an X-linked recessive condition that develops mostly in men, while women are carriers.
    source quote
    Because oculocerebrorenal syndrome is an X-linked recessive condition, the disease develops mostly in men with very rare occurrences in women, while women are carriers of the disease
  • It has an estimated prevalence of 1 in 500,000 people.
    source quote
    it has an estimated prevalence of 1 in 500,000 people
  • It is caused by mutations in the OCRL gene which encodes an inositol polyphosphate-5-phosphatase.
    source quote
    This syndrome is caused by mutations in the OCRL gene which encodes an inositol polyphosphate-5-phosphatase
  • It can be considered a cause of Fanconi syndrome.
    source quote
    Lowe syndrome can be considered a cause of Fanconi syndrome
  • It was first described in 1952 by American paediatrician Charles Upton Lowe.
    source quote
    It was first described in 1952 by American paediatrician Charles Upton Lowe (1921–2012)
  • It is named oculocerebrorenal syndrome because of the three major organ systems involved: eyes, brain and kidney.
    source quote
    Because of the three major organ systems involved (eyes, brain and kidney), it is known as oculocerebrorenal syndrome.
Symptoms
  • Boys with Lowe syndrome are born with cataracts in both eyes.
    source quote
    Boys with Lowe syndrome are born with cataracts in both eyes
  • Glaucoma is present in about half of individuals, though usually not at birth.
    source quote
    glaucoma is present in about half of the individuals with Lowe syndrome, though usually not at birth
  • Kidney problems develop in many affected boys at about one year of age.
    source quote
    While not present at birth, kidney problems develop in many affected boys at about one year of age.
  • Renal pathology involves abnormal loss of substances including bicarbonate, sodium, potassium, amino acids, organic acids, albumin, calcium and L-carnitine.
    source quote
    Renal pathology is characterized by an abnormal loss of certain substances into the urine , including bicarbonate , sodium , potassium , amino acids , organic acids , albumin , calcium and L-carnitine
  • This renal problem is known as Fanconi-type renal tubular dysfunction.
    source quote
    This problem is known as Fanconi-type renal tubular dysfunction.
  • The syndrome is characterized by hypotonia and intellectual disability.
    source quote
    characterized by congenital cataracts, hypotonia , intellectual disability , proximal tubular acidosis , aminoaciduria and low-molecular-weight proteinuria
Diagnosis
  • Diagnosis can be done via genetic testing.
    source quote
    Diagnosis of oculocerebrorenal syndrome can be done via genetic testing
Treatment
  • Glaucoma control via medication.
    source quote
    Glaucoma control (via medication)
  • Nasogastric tube feeding.
    source quote
    Nasogastric tube feeding
  • Physical therapy.
    source quote
    Physical therapy
  • Clomipramine.
    source quote
    Clomipramine
  • Potassium citrate.
    source quote
    Potassium citrate
AI-synthesized from the Wikipedia article “Oculocerebrorenal syndrome”. Not medical advice. Verify source →
Oculocerebrorenal syndrome
Other namesLowe syndrome
Infant with oculocerebrorenal syndrome
SpecialtyObstetrics and gynaecology, urology, neurology, medical genetics, endocrinology, ophthalmology 
SymptomsCataracts[1]
CausesMutations in OCRL gene[1]
Diagnostic methodMRI, urinalysis[2]
TreatmentPhysical therapy, clomipramine[3]

Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss and sodium loss[4]).[5][6]

Boys with Lowe syndrome are born with cataracts in both eyes; glaucoma is present in about half of the individuals with Lowe syndrome, though usually not at birth. While not present at birth, kidney problems develop in many affected boys at about one year of age.[1] Renal pathology is characterized by an abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin, calcium and L-carnitine. This problem is known as Fanconi-type renal tubular dysfunction.[medical citation needed]

This syndrome is caused by mutations in the OCRL gene which encodes an inositol polyphosphate-5-phosphatase. At least one mechanism by which these mutations cause this syndrome is by loss of its Rab-binding domain.[7][8]This protein is associated with the primary cilia of the retinal pigment epithelial cells, fibroblasts and kidney tubular cells. This suggests that this syndrome is due to dysfunction of the cilia in these cells.[8] About 120 mutations are associated with this condition and OCRL gene which is associated with oculocerebrorenal syndrome[9]

Diagnosis of oculocerebrorenal syndrome can be done via genetic testing[10] Among the different investigations that can be done are:[2]

Potassium citrate

In terms of treatment of oculocerebrorenal syndrome for those individuals who are affected by this condition includes the following:[3]

Because oculocerebrorenal syndrome is an X-linked recessive condition, the disease develops mostly in men with very rare occurrences in women, while women are carriers of the disease; it has an estimated prevalence of 1 in 500,000 people.[11]

It was first described in 1952 by American paediatrician Charles Upton Lowe (1921–2012)[12][13] and colleagues at the Massachusetts General Hospital in Boston.[14] Because of the three major organ systems involved (eyes, brain and kidney), it is known as oculocerebrorenal syndrome.[1]

  1. 1 2 3 4 "Oculocerebrorenal Syndrome: Background, Pathophysiology, Epidemiology". 2016-06-01. Archived from the original on 2019-05-01. Retrieved 2016-12-21. {{cite journal}}: Cite journal requires |journal= (help)
  2. 1 2 "Lowe's (Oculo-Cerebro-Renal) Syndrome | Doctor | Patient". Patient. Archived from the original on 21 December 2016. Retrieved 21 December 2016.
  3. 1 2 RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Oculocerebrorenal syndrome of Lowe". www.orpha.net. Archived from the original on 21 December 2016. Retrieved 21 December 2016.{{cite web}}: CS1 maint: numeric names: authors list (link)
  4. ↑ "Fanconi syndrome: MedlinePlus Medical Encyclopedia". medlineplus.gov. Archived from the original on 2019-07-27. Retrieved 2016-12-21.
  5. ↑ Lewis, Richard Alan; Nussbaum, Robert L.; Brewer, Eileen D. (1993-01-01). "Lowe Syndrome". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301653. Archived from the original on 2020-09-29. Retrieved 2017-09-07.update 2012
  6. ↑ "OMIM Entry - # 309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL". omim.org. Archived from the original on 8 October 2019. Retrieved 21 December 2016.
  7. ↑ Hagemann, Nina; Hou, Xiaomin; Goody, Roger S.; Itzen, Aymelt; Erdmann, Kai S. (2017-06-01). "Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome". Small GTPases. 3 (2): 107–110. doi:10.4161/sgtp.19380. ISSN 2154-1256. PMID 22790198.
  8. 1 2 Reference, Genetics Home. "Lowe syndrome". Genetics Home Reference. Archived from the original on 4 December 2019. Retrieved 21 December 2016.
  9. ↑ Reference, Genetics Home. "OCRL gene". Genetics Home Reference. Archived from the original on 22 April 2019. Retrieved 21 December 2016.
  10. ↑ "Lowe syndrome - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Archived from the original on 30 January 2019. Retrieved 21 December 2016.
  11. ↑ Loi M (2006). "Lowe Syndrome". Orphanet Journal of Rare Diseases. 1 16. doi:10.1186/1750-1172-1-16. PMC 1526415. PMID 16722554.
  12. ↑ Kelly, Evelyn B. (2013). Encyclopedia of human genetics and disease. Santa Barbara, Calif.: Greenwood. ISBN 9780313387142. Retrieved 21 December 2016.
  13. ↑ Loring, David W.; Bowden, Stephen (2015). INS Dictionary of Neuropsychology and Clinical Neurosciences. Oxford University Press, Incorporated. ISBN 9780195366457. Retrieved 21 December 2016.
  14. ↑ Lowe CU, Terrey M, MacLachlan EA (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity". American Journal of Diseases of Children. 83 (2): 164–84. doi:10.1001/archpedi.1952.02040060030004. PMID 14884753.