Article
Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.
Investigative ophthalmology & visual science - 18 Apr 2012
Mullins Robert F, Kuehn Markus H, Radu Roxana A, Enriquez G Stephanie, East Jade S, Schindler Emily I, Travis Gabriel H, Stone Edwin M
Abstract excerpt
PURPOSE: Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous condition characterized by progressive loss of retinal photoreceptor cells. In order to gain new insights into the pathogenesis of ARRP, we evaluated the morphological, biochemical, and gene expression changes in eyes from a human donor with ARRP due to mutations in the ABCA4 gene. METHODS: Eyes were obtained postmortem from a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.