Article
Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
Eye (London, England) - 1 Mar 2009
Al-Maskari A, O'grady A, Pal B, McKibbin M
Abstract excerpt
PURPOSE: To report phenotypic progression for a novel mutation in the RPGRgene causing X-linked retinitis pigmentosa (RP), and describe the phenotype in affected males and females. METHODS: Bidirectional fluorescent sequencing analysis was used to screen for mutations in RPGR. Five affected males and eight affected females from two English families underwent refraction, ETDRS visual acuity, OCT imaging, and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.