Renal dysplasia and retinal aplasia, Juvenile nephronophthisis with retinal dystrophy
Type of disease: Rare conditions
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.