Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss

J Appl Genet. 2004;45(1):107-10.


Three brothers, one 10-year-old and a pair of 14-year-old dizygotic twins--expressed the classical, early-onset retinitis pigmentosa (RP) with typical ophthalmoscopic findings, night blindness, visual field constricted to 10 degrees and flat ERG response. All three brothers were also diagnosed with primary ciliary dyskinesia (PCD) and had recurrent respiratory infections, chronic sinusitis and bronchiectasis. In all of them, resection of the middle lobe of the right lung was performed. A similar clinical picture of coexisting RP and PCD was noted in the brother of the probands' mother. All probands displayed situs solitus. Consistent with the X-linked mode of RP inheritance, there were also three obligatory female carriers of the disorder in this family: the mother of the affected boys, her mother and a daughter of her brother. In all of them, retinitis pigmentosa "sine pigmento" was found with milder but clinically significant symptoms (mild night blindness, visual field constricted to 30 degrees, and scotopic and photopic ERG responses reduced to 30-60%). No extraocular symptoms were detected in any of the heterozygous female carriers. This family presents an example of two rare phenomena: X-linked dominant retinitis pigmentosa (with milder expression in females) and a rare combination of RP with recurrent respiratory infections due to PCD.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Twin Study

MeSH terms

  • Adolescent
  • Child
  • Chromosomes, Human, X / genetics
  • Female
  • Genetic Linkage
  • Hearing Loss / complications
  • Hearing Loss / genetics*
  • Humans
  • Kartagener Syndrome / complications
  • Kartagener Syndrome / genetics*
  • Male
  • Pedigree
  • Retinitis Pigmentosa / complications
  • Retinitis Pigmentosa / genetics*
  • Twins, Dizygotic