Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.
Senior-Løken syndrome can be caused by mutations in one of at least five genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells; they are involved in signaling pathways that transmit information between cells. Cilia are important for the structure and function of many types of cells, including certain cells in the kidneys. They are also necessary for the perception of sensory input (such as vision, hearing, and smell).
Senior-Løken syndrome is a rare disorder, with an estimated prevalence of about 1 in 1 million people worldwide. Only a few families with the condition have been described in the medical literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Panagiotis Sergouniotis is in Manchester, United Kingdom. Sergouniotis is rated as a Distinguished expert by MediFind in the treatment of Senior-Loken Syndrome. He is also highly rated in 15 other conditions, according to our data. His top areas of expertise are Senior-Loken Syndrome, X-Linked Congenital Stationary Night Blindness, Leber Congenital Amaurosis, and Late-Onset Retinal Degeneration.
Tahar Gargah is in Tunis, Tunisia. Gargah is rated as a Distinguished expert by MediFind in the treatment of Senior-Loken Syndrome. They are also highly rated in 13 other conditions, according to our data. Their top areas of expertise are Senior-Loken Syndrome, Primary Hyperoxaluria Type 1, Primary Hyperoxaluria, and Nephrocalcinosis.
Graeme Black is in Sheffield, United Kingdom. Black is rated as a Distinguished expert by MediFind in the treatment of Senior-Loken Syndrome. He is also highly rated in 27 other conditions, according to our data. His top areas of expertise are Brittle Cornea Syndrome, Senior-Loken Syndrome, Late-Onset Retinal Degeneration, and 3M Syndrome.
Published Date:updated Last, June
Published By: National Institutes of Health