Senior Loken Syndrome

Title

Other Names:

Senior-Loken Syndrome; Renal dysplasia retinal aplasia; Renal-retinal syndrome; Senior-Loken Syndrome; Renal dysplasia retinal aplasia; Renal-retinal syndrome; Juvenile nephronophthisis with Leber amaurosis; Loken-Senior syndrome See More

Categories:

Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases

Summary Summary

Senior Loken syndrome (SLS) is a rare syndrome that mainly affects the kidneys and eyes. SLS causes a cystic kidney disease called nephronophthisis, which usually begins in early childhood. The kidneys develop cysts, inflammation, and scarring, which progressively impair kidney function. Symptoms of nephronophthisis may include increased production of urine, excessive thirst, weakness, and severe fatigue. Nephronophthisis typically leads to end-stage kidney disease by adolescence.^[1]^[2]^[3]

SLS affects the eyes by causing varying degrees of retinal dystrophy, which is progressive wasting of the retina (the part of the eye that senses light and sends images to the brain). Some children with SLS have a severe type of retinal dystrophy at birth called Leber congenital amaurosis (LCA). Symptoms of LCA include severe farsightedness, light sensitivity (photophobia), and nystagmus.^[1]^[3] Other children with SLS do not have LCA but later develop symptoms of a retinal dystrophy called retinitis pigmentosa (RP). Symptoms of RP range in age of onset and severity, and may include night blindness, progressive loss of peripheral vision, and eventual loss of central vision, leading to blindness.^[3]^[4]

In rare cases, additional symptoms such as liver fibrosis or skeletal abnormalities have been reported.^[3]^[5]

SLS may be caused by mutations in any of several genes, and inheritance is autosomal recessive. The syndrome can be diagnosed based on symptoms, kidney and eye evaluations, and genetic testing.^[3]

Treatment during earlier stages of kidney disease in children includes maintaining a healthy balance of fluid and electrolytes. End-stage kidney disease requires dialysis, or kidney transplantation. After transplantation, kidney damage does not occur again.^[3]^[6] End-stage kidney disease can be life-threatening if not treated. There is currently no treatment to prevent or stop the progression of vision loss due to retinal dystrophy, but various low-vision aids may be helpful for those who have remaining vision.^[3]

Last updated: 4/13/2015

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormality of retinal pigmentation		0007703
Global developmental delay		0001263
Hypertension		0000822
Retinal dystrophy		0000556
Short stature	Decreased body height Small stature [ more ]	0004322
Stage 5 chronic kidney disease		0003774
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
30%-79% of people have these symptoms
Nephronophthisis		0000090
Premature ovarian insufficiency	Early menopause Premature menopause Premature ovarian failure [ more ]	0008209
Progressive visual loss	Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ]	0000529
5%-29% of people have these symptoms
Abnormality of bone mineral density		0004348
Ataxia		0001251
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Cone-shaped epiphysis	Cone-shaped end part of bone	0010579
Congenital hepatic fibrosis		0002612
Percent of people who have these symptoms is not available through HPO
Anemia	Low number of red blood cells or hemoglobin	0001903
Autosomal recessive inheritance		0000007
Polydipsia		0001959
Polyuria	Increased urine output	0000103
Tapetoretinal degeneration		0000547

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2018

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

Orphanet lists international laboratories offering diagnostic testing for this condition.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
SLSN presents genetic and clinical overlap with other ciliopathies, in particular with isolated NPHP, Joubert syndrome related diseases (JSRD), mainly Joubert syndrome with oculorenal defect (JS-OR), Bardet-Biedl syndrome (BBS) and Alström syndrome (see these terms). Physical examination should consider the presence of the main clinical signs of JSRD (hypotonia, ataxia and breathing abnormalities in infants) and BBS (polydactyly and obesity). The phenotypic hallmark of JSRD is the presence on MRI of 'molar tooth sign' (a midbrain-hindbrain malformation). Other extrarenal signs to consider are nystagmus, psychomotor and learning delay, diabetes mellitus, deafness, hypogonadism, and/or scoliosis. Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

SLSN presents genetic and clinical overlap with other ciliopathies, in particular with isolated NPHP, Joubert syndrome related diseases (JSRD), mainly Joubert syndrome with oculorenal defect (JS-OR), Bardet-Biedl syndrome (BBS) and Alström syndrome (see these terms). Physical examination should consider the presence of the main clinical signs of JSRD (hypotonia, ataxia and breathing abnormalities in infants) and BBS (polydactyly and obesity). The phenotypic hallmark of JSRD is the presence on MRI of 'molar tooth sign' (a midbrain-hindbrain malformation). Other extrarenal signs to consider are nystagmus, psychomotor and learning delay, diabetes mellitus, deafness, hypogonadism, and/or scoliosis.

Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Senior Loken Syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.
The University of Washington's Hindbrain Malformation Research Program invites individuals with this condition to participate in their research program. Click on the link for more information on how to participate in their research study.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Senior Loken Syndrome. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Senior Loken Syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Senior-Løken syndrome. Genetics Home Reference (GHR). June 2012; http://ghr.nlm.nih.gov/condition/senior-loken-syndrome.
Nephronophthisis. Genetics Home Reference. September, 2014; https://ghr.nlm.nih.gov/condition/nephronophthisis.
Senior Løken Syndrome. National Organization for Rare Disorders (NORD). 2016; https://rarediseases.org/rare-diseases/senior-loken-syndrome/.
Ronquillo CC, Bernstein PS, Baehr W. Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. Vision Res. December 15, 2012; 75:88-97. https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22819833/.
Qiu L, Mais DD. Clinicopathologic Features of Hepatic Involvement in SeniorLoken Syndrome: A Case Report and Review of Literature. J Liver Clin Res. October, 2017; 4(2):1037. https://www.jscimedcentral.com/Liver/liver-4-1037.pdf.
Niaudet P. Clinical manifestations, diagnosis, and treatment of nephronophthisis. UpToDate. Waltham, MA: UpToDate; September 14, 2017; https://www.uptodate.com/contents/clinical-manifestations-diagnosis-and-treatment-of-nephronophthisis.
Avila A, Ayuso C, Corton M, Millan Salvador JM. Senior-Loken syndrome. Orphanet. December, 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156.