NPHP1 gene mutations and deletions are the most frequent cause of nephronophthisis, or NPH. NPH is the leading cause of pediatric hereditary, end-stage kidney disease, which requires a life-saving kidney transplant, dialysis, or both. Rarely, these mutations also manifest in other disease types, including retinal dystrophies, which are blinding diseases of the eye. 

The NPHP1 Family Foundation is dedicated to funding research that leads to therapeutic treatments that will preserve and even restore vision for children and adults impacted by NPHP1 retinal dystrophies.