Author reply

Abstract

We thank Dr. Iannaccone and coauthors for their helpful comments and their interest in our retinitis pigmentosa study in the October issue. The addition of their important study to ours and that of Zito and associates confirms that there is an important new association between defects in RPGR and hearing loss, in addition to the now well established relationship with severe X-linked retinitis pigmentosa. Of interest is the fact that in some pedigrees the hearing loss appears to be sensorineural, and in others conductive. Important is the work of Iannaccone and associates, in which they showed that RPGR is indeed expressed in the tissues where our pathology was found (that is, the cells lining the bronchi, sinuses, and cochlea), thereby providing a basis for our collective observations. Of note as well is the observation that one region of the RPGR gene (ORF15) is a hot spot for mutations in retinitis pigmentosa patients. However, all RPGR mutations thus far associated with retinitis pigmentosa, hearing loss, sinusitis, and recurrent infections have been found outside of the ORF15 exon.