Article Text

other Versions

PDF
The dot and fleck retinopathy of X-linked Alport sydnrome is independent of complement factor H (CFH) gene polymorphisms
  1. John Liu (uniform_convergence{at}hotmail.com),
  2. Deb Colville (colville{at}unimelb.edu.au),
  3. Yan Yan Wang (yywang{at}unimelb.edu.au),
  4. Paul N Baird (pnb{at}unimelb.edu.au),
  5. Robyn H Guymer (rhguymer{at}unimelb.edu.au),
  6. Judy Savige (jasavige{at}unimelb.edu.au)
  1. The University of Melbourne Department of Medicine (Northern Health), Australia
  2. The University of Melbourne Department of Medicine (Northern Health), Australia
  3. The University of Melbourne Department of Medicine (Northern Health), Australia
  4. Centre for Eye Research Australia, East Melbourne, VIC 3002, Australia
  5. Centre for Eye Research Australia, East Melbourne, VIC 3002, Australia
  6. The University of Melbourne Department of Medicine (Northern Health), Australia

    Abstract

    Background and Aims: X-linked Alport syndrome is characterised by renal failure, hearing loss, lenticonus, and a central and peripheral dot-and-fleck retinopathy. Complement Factor H (CFH) gene variants are strongly associated with retinal drusen in macular degeneration and mesangiocapillary glomerulonephritis, and this study determined their role in the development of the Alport retinopathy.

    Methods: Twenty-three males and 27 females from 27 unrelated families were examined and their DNA tested for the CFH risk allele (1277 T>C, h1, Y402H) and protective haplotypes (h2 and h4) using a MALDI-TOF-based method.

    Results: The prevalence of the CFH risk allele was not increased in males with a central or peripheral retinopathy. Three of the 9 (33%) with the central retinopathy had at least one copy of the risk allele, and 5 of the 14 (36%) without the retinopathy did (NS, OR 0.900, CI 0.154 – 5.259). Four of the 12 (33%) with either retinopathy had the risk allele, and 2 of the 6 (33%) with none did, NS OR 1.0, CI 0.125 – 7.996).

    Conclusion: The pathogenesis of the retinal dots and flecks in Alport syndrome is independent of CFH-dependent mechanisms and, like other clinical features, may depend on the nature of the underlying COL4A5 mutations.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.