Coexistence of macular corneal dystrophy types I and II in a single sibship.


Journal Article

BACKGROUND: Macular corneal dystrophy (MCD) is an inherited autosomal recessive disorder that has been subdivided into two primary immunophenotypes, MCD types I and II. The MCD type I gene has been localised previously to chromosome 16q22 and suggestive evidence provided that MCD type II gene is also linked to this region. Here an unusual family is reported where both MCD types I and II are found in a single sibship. METHODS: Immunoreactivity to an anti-keratan sulphate monoclonal antibody (5-D-4) was evaluated in patients' serum and in corneal tissue obtained at keratoplasty. Chromosomal haplotypes were constructed using microsatellite repeat markers spanning the region of the MCD type I locus. RESULTS: Immunological studies demonstrated that two of the affected siblings have MCD type II while one has MCD type I. Haplotype analysis suggests that all three affected sibs inherited one identical parental haplotype. However, the two MCD types differ in their alternative chromosome with both MCD type II children sharing an identical haplotype, different from their MCD type I sibling. CONCLUSION: The findings in this study support the hypothesis that the genes for MCD types I and II co-localise to the same region of chromosome 16 and are likely to be due to allelic manifestations of the same abnormal gene.

Full Text

Duke Authors

Cited Authors

  • Liu, NP; Baldwin, J; Lennon, F; Stajich, JM; Thonar, EJ; Pericak-Vance, MA; Klintworth, GK; Vance, JM

Published Date

  • March 1, 1998

Published In

Volume / Issue

  • 82 / 3

Start / End Page

  • 241 - 244

PubMed ID

  • 9602619

Pubmed Central ID

  • 9602619

International Standard Serial Number (ISSN)

  • 0007-1161

Digital Object Identifier (DOI)

  • 10.1136/bjo.82.3.241


  • eng

Conference Location

  • England