Senior–L√∏ken syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Senior–Løken syndrome
Synonyms	SLSN
Pronounce
Specialty	Nephrology, Ophthalmology
Symptoms	Retinal degeneration, nephronophthisis
Complications	N/A
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks	Family history
Diagnosis	Genetic testing, ophthalmologic examination, renal ultrasound
Differential diagnosis	Bardet–Biedl syndrome, Alström syndrome
Prevention	N/A
Treatment	Symptomatic management, kidney transplant
Medication
Prognosis	Variable, depends on severity of kidney and eye involvement
Frequency	Rare
Deaths

Senior–L√∏ken syndrome is a rare genetic disorder characterized by a combination of nephronophthisis (a type of kidney disease) and retinitis pigmentosa (a type of eye disease). This syndrome is part of a group of disorders known as ciliopathies, which are caused by defects in the function of cilia, the hair-like structures on the surface of cells.

Presentation

Individuals with Senior–L√∏ken syndrome typically present with symptoms of nephronophthisis during childhood, which may include excessive thirst, frequent urination, and chronic kidney disease. The kidney disease often progresses to end-stage renal disease (ESRD) by adolescence or early adulthood. The retinitis pigmentosa component of the syndrome leads to progressive vision loss, starting with difficulty seeing in low light conditions (night blindness) and loss of peripheral vision. Over time, this can progress to complete blindness.

Genetics

Senior–L√∏ken syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, to develop the syndrome. Several genes have been associated with Senior–L√∏ken syndrome, including NPHP1, NPHP3, and IQCB1.

Diagnosis

Diagnosis of Senior–L√∏ken syndrome is based on clinical findings and genetic testing. Ultrasound and other imaging techniques can be used to assess kidney function, while electroretinography and other eye exams can evaluate the extent of retinal degeneration.

Management

There is currently no cure for Senior–L√∏ken syndrome. Management focuses on treating the symptoms and complications of the disease. This may include dialysis or kidney transplantation for kidney failure and supportive therapies for vision loss.

Prognosis

The prognosis for individuals with Senior–L√∏ken syndrome varies depending on the severity of the kidney and eye involvement. Early diagnosis and management can improve quality of life and outcomes.

See also

• Nephronophthisis
• Retinitis pigmentosa
• Ciliopathy
• Autosomal recessive
• End-stage renal disease

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