Detection of the carrier state of X-linked retinoschisis

Am J Ophthalmol. 1988 Jun 15;105(6):590-5. doi: 10.1016/0002-9394(88)90049-9.

Abstract

We determined the extent of suppressive rod-cone interaction in 11 obligate carriers and eight potential carriers of X-linked retinoschisis from eight families. Despite otherwise normal ophthalmoscopic and functional testing, all of the obligate heterozygous carriers demonstrated a complete absence of normal rod-cone interaction. Of the potential heterozygous carriers, three had normal rod-cone interactions, two had no detectable interaction, and two yielded technically unsatisfactory results. This lack of rod-cone interactions allows heterozygous individuals to be identified clinically and has implications concerning the origin of this inherited disorder.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Flicker Fusion
  • Genetic Carrier Screening / methods*
  • Humans
  • Pedigree
  • Photoreceptor Cells / physiopathology
  • Retinal Perforations / genetics*
  • Retinal Perforations / physiopathology
  • Sensory Thresholds
  • X Chromosome*