Article
Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.
Experimental eye research - 1 Oct 2002
Aguirre Gustavo D, Yashar Beverly M, John Sinoj K, Smith Julie E, Breuer Debra K, Hiriyanna S, Swaroop Anand, Milam Ann H
Abstract excerpt
X-linked retinitis pigmentosa comprises the severe forms of RP, with early onset of night blindness, rapid constriction of visual fields and eventual loss of central acuity. Of the five distinct XLRP loci identified on the X chromosome, mutations have been found only in the RP2 and RPGR genes. Of these, mutations in RPGR are more common, particularly in a mutational hot spot that was identified in the newly...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.