Senior–Løken syndrome

Autosomal recessive - en

Senior–Løken 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[edit | edit source]

Individuals with Senior–Løken 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[edit | edit source]

Senior–Løken 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–Løken syndrome, including NPHP1, NPHP3, and IQCB1.

Diagnosis[edit | edit source]

Diagnosis of Senior–Løken 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[edit | edit source]

There is currently no cure for Senior–Løken 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[edit | edit source]

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