A New Animal Model for Senior-Loken Syndrome
Title: A New Animal Model for Senior-Loken Syndrome
Author: Nikko Ronquilo
Keywords/Main Subjects: Senior-Loken Syndrome; Medullary cystic kidney disease; Retinitis pigmentosa; Photoreceptor degeneration; Nyctalopia; NPHP5
Secondary CORE Category: Retina and Vitreous / Hereditary and Choroidal Dystrophies / Diffuse Photoreceptor Dystrophies
Diagnosis: Senior-Loken Syndrome
Brief Description: This is a research presentation of the development of a mouse model of Senior-Loken syndrome. Using this model, the function of NPHP5, a gene commonly associated with Senior-Loken syndrome is investigated. In addition, a review of the pathogenesis, genetics, and clinical features of Senior-Loken syndrome in humans is presented.
Series: Moran Eye Center Grand Rounds