Senior-Loken Syndrome: From Human Genetics to an Animal Model
Title: Senior-Loken Syndrome: From Human Genetics to an Animal Model
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
Diagnosis: Senior-Loken Syndrome
Brief Description: This is a research presentation of the development of a mouse model of Senior-Loken syndrome. A review of the pathogenesis, genetics, and clinical features of Senior-Loken syndrome in humans is presented. Discussion of the primary cilium and its potential role in Senior-Loken syndrome is undertaken. The production and characterization of NPHP5 knockout mice is described.
Series: Moran Eye Center Grand Rounds