Senior-Loken syndrome 1

Senior-Loken syndrome 1 is a rare genetic condition caused by a mutation in the NPHP1 gene. It is one form of Senior-Loken syndrome, a group of disorders where both the kidneys and the eyes may be affected. This condition is recognized by its association with kidney problems and vision issues. While the exact symptoms and how they progress can vary, the core feature is the link between abnormal kidney function and retinal changes, as indicated by the information provided.

People with this condition may experience signs related to kidney function such as changes in kidney structure and function. In addition, several synonyms for this syndrome suggest that there are eye-related symptoms, including retinal issues that can affect vision. However, detailed information about the range and severity of symptoms is limited for this condition.

The cause of Senior-Loken syndrome 1 is a mutation in the NPHP1 gene. This genetic change leads to the development of the condition. The condition is inherited, meaning the mutation is passed from parents to children, although more specific details about the inheritance pattern are not provided.

Information about treatment options and management approaches is currently limited for this condition.

Information about the outlook and quality of life for people with this condition is currently limited.

Information about current research and potential future directions for Senior-Loken syndrome 1 is currently limited.