Article
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.
Molecular vision - 21 Nov 2009
Henderson Robert H, Williamson Kathleen A, Kennedy Joanna S, Webster Andrew R, Holder Graham E, Robson Anthony G, FitzPatrick David R, van Heyningen Veronica, Moore Anthony T
Abstract excerpt
PURPOSE: To describe the clinical findings of a patient with an early onset retinal dystrophy and a novel mutation in OTX2, and to compare these findings with previously reported cases. METHODS: Using direct sequencing, we screened 142 patients, who had either Leber congenital amaurosis (LCA) or early onset retinal dystrophy (EORD), for mutations in OTX2. All patients received a detailed ophthalmic examination...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.