X-linked recessive atrophic macular degeneration from RPGR mutation

Genomics. 2002 Aug;80(2):166-71. doi: 10.1006/geno.2002.6815.


We mapped a new X-linked recessive atrophic macular degeneration locus to Xp21.1-p11.4 and show allelic involvement of the gene RPGR, which normally causes severe peripheral retinal degeneration leading to global blindness. Ten affected males whom we examined had primarily macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. One additional male showed extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) showed normal cone and rod responses in some affected males despite advanced macular degeneration, emphasizing the dissociation of atrophic macular degeneration from generalized cone degenerations, including X-linked cone dystrophy (COD1). The RPGR gene nonsense mutation G-->T at open reading frame (ORF)15+1164 cosegregated with the disease and may create a donor splice site. Identification of an RPGR mutation in atrophic maculardegeneration expands the phenotypic range associated with this gene and provides a new tool for the dissection of the relationship between clinically different retinal pathologies.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Carrier Proteins / genetics*
  • Chromosomes, Human, X*
  • Codon, Nonsense
  • Eye Proteins*
  • Female
  • Genes, Recessive*
  • Heterozygote
  • Humans
  • Macular Degeneration / genetics*
  • Macular Degeneration / physiopathology
  • Male
  • Middle Aged
  • Retina / pathology
  • Sequence Analysis, DNA


  • Carrier Proteins
  • Codon, Nonsense
  • Eye Proteins
  • RPGR protein, human