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Retinal Histopathology Of An Xlrp Carrier With A Mutation In The Rpgr Exon Orf15, Gustavo Aguirre, Beverly Yashar, Sinoj John, Julie Smith, K Breuer, S Hiriyanna, Anand Swaroop, Ann Milam
Retinal Histopathology Of An Xlrp Carrier With A Mutation In The Rpgr Exon Orf15, Gustavo Aguirre, Beverly Yashar, Sinoj John, Julie Smith, K Breuer, S Hiriyanna, Anand Swaroop, Ann Milam
Gustavo D. Aguirre, VMD, PhD
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 theRP2 and RPGR genes. Of these, mutations in RPGR are more common, particularly in a mutational hot spot that was identified in the newly discovered exon ORF15. We report on an extended family with a microdeletion in RPGR exon ORF15 and the retinalhistopathology of a female carrier of this mutation. We found a 1 bp …