Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1)

Hee Kyung Hong, Robert E. Ferrell, Michael B. Gorin*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

33 Scopus citations

Abstract

X-linked progressive cone dystrophy (COD1) causes progressive deterioration of visual acuity, deepening of central scotomas, macular changes, and bull's-eye lesions. The cone electroretinography (ERG) is variably abnormal in affected males, and the rod ERG may also be abnormal. The clinical picture of heterozygous females ranges from asymptomatic to a widespread spectrum of cone-mediated dysfunction. A prior linkage study demonstrated linkage between the COD1 locus and the marker locus DXS84, assigned to Xp21.1, with no recombination. In the present study, we have clinically characterized a large four-generation family with COD1 and have performed a linkage analysis using seven polymorphic markers on the short arm of the X chromosome. No recombination was observed between the disease and the marker loci DXS7 and MAOA, suggesting that the location of COD1 is in the region Xp11.3, distal to DXS84 and proximal to ARAF1.

Original languageEnglish (US)
Pages (from-to)1173-1181
Number of pages9
JournalAmerican journal of human genetics
Volume55
Issue number6
StatePublished - Dec 1994

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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