Senior Loken Syndrome

Common Name(s)

Senior Loken Syndrome, Renal dysplasia and retinal aplasia

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Senior Loken Syndrome" for support, advocacy or research.

Joubert Syndrome and Related Disorders Foundation

Our mission is to serve individuals worldwide who are diagnosed with Joubert Syndrome and related disorders, their families and support networks by creating opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

Last Updated: 28 Oct 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Senior Loken Syndrome" for support, advocacy or research.

Joubert Syndrome and Related Disorders Foundation

Our mission is to serve individuals worldwide who are diagnosed with Joubert Syndrome and related disorders, their families and support networks by creating opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

http://www.jsrdf.org

Last Updated: 28 Oct 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Senior Loken Syndrome" returned 11 free, full-text research articles on human participants. First 3 results:

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
 

Author(s): R G Coussa, E A Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandt, R K Koenekoop

Journal: Clin. Genet.. 2013 Aug;84(2):150-9.

 

Autosomal recessive retinitis pigmentosa (arRP) is a clinically and genetically heterogeneous retinal disease that causes blindness. Our purpose was to identify the causal gene, describe the phenotype and delineate the mutation spectrum in a consanguineous Quebec arRP family. We performed ...

Last Updated: 10 Jul 2013

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Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
 

Author(s): Edwin M Stone, Artur V Cideciyan, Tomas S Aleman, Todd E Scheetz, Alexander Sumaroka, Mary A Ehlinger, Sharon B Schwartz, Gerald A Fishman, Elias I Traboulsi, Byron L Lam, Anne B Fulton, Robert F Mullins, Val C Sheffield, Samuel G Jacobson

Journal: Arch. Ophthalmol.. 2011 Jan;129(1):81-7.

 

To investigate whether mutations in NPHP5 can cause Leber congenital amaurosis (LCA) without early-onset renal disease.

Last Updated: 11 Jan 2011

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Senior-Loken syndrome in an Iranian family.
 

Author(s): Jamshid Roozbeh, Maryam Sharifian, Hamid Hosseini, Mohammad Mahdi Sagheb, Saeed Behzadi, Ghanbar Ali Raeisjalali, Alireza Iraniparast, Raha Afshariani, Masume Tohidi, Mostafa Sharifian

Journal: Saudi J Kidney Dis Transpl. 2010 Jul;21(4):735-7.

 

Senior-Loken syndrome is a rare entity that combines familial juvenile nephronophthisis with retinal dystrophy. Herein, we report Senior-Loken syndrome in six members of an Iranian family with progressive blindness and renal failure since childhood. Although, this syndrome was reported ...

Last Updated: 30 Jun 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Senior Loken Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.
 

Author(s): C C Ronquillo, P S Bernstein, W Baehr

Journal: Vision Res.. 2012 Dec;75():88-97.

 

Senior-Løken syndrome (SLS) is an autosomal recessive disease characterized by development of a retinitis pigmentosa (RP)- or Leber congenital amaurosis (LCA)-like retinal dystrophy and a medullary cystic kidney disease, nephronophthisis. Mutations in several genes (called nephrocystins) ...

Last Updated: 4 Dec 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 14 Mar 2014

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