Senior-Loken syndrome

Common Name(s)

Senior-Loken syndrome, Renal dysplasia and retinal aplasia, Juvenile nephronophthisis with retinal dystrophy

Senior-Løken syndrome is genetic condition along the spectrum of Joubert syndrome and related disorders (JSRD). It is characterized by a kidney condition known as nephronophthisis and retinal dystrophy, a condition that affects the retina (back of the eye) and impairs vision, sometimes causing blindness. Senior-Løken syndrome is often caused by the absence or underdevelopment of a part of the brain known as the cerebellar vermis, which manages balance and coordination. This causes a variety of conditions, depending on how severely the cerebellar vermis is affected. Common symptoms associated with Senior-Løken syndrome are increased thirst or urination associated with the nephronophthisis, and occasionally anemia. Early symptoms of the retinal dystrophy associated with Senior-Løken syndrome may include increased pigmentation (color) or loss of vision, and the inability to see at night. Other symptoms that are less common, but may occur, include mental delay or impairment, difficulty with coordination, decreased muscle tone (hypotonia), abnormal breathing patterns, abnormal facial features (wide set eyes, broad mouth, etc.), and more. Diagnosis of the condition is generally made through an MRI scan in which the underdevelopment of the cerebellar vermis is seen. This is often referred to as the "Molar Tooth" sign. Management of the condition depends on the severity, and frequent checkups with specialists for the eye and kidney conditions is recommended, as well as speaking with a geneticist and other knowledgeable professionals. Dialysis and other kidney treatments may be necessary to maintain kidney functions, as well as medications or even transplants.Senior-Løken syndrome is inherited as an autosomal recessive condition. It is best to consult your doctor to find the best treatment plan for you or your child. Support groups are also a good source of information and support.

Source: Advocacy organizations associated with the condition.

 

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: 1 Nov 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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: 1 Nov 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Go To URL
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

Go To URL
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

Go To URL

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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

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: 11 Nov 2014

Go to URL